SNP Links for Nucleotide (Select 313747416) - SNP

Links from Nucleotide

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Select item 14906599211.

rs1490659921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32980095 (GRCh38)
6:32947872 (GRCh37)
Canonical SPDI:: NC_000006.12:32980094:C:G,NC_000006.12:32980094:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32980095C>G, NC_000006.12:g.32980095C>T, NC_000006.11:g.32947872C>G, NC_000006.11:g.32947872C>T, NG_042801.1:g.16436C>G, NG_042801.1:g.16436C>T, NM_005104.4:c.2109C>G, NM_005104.4:c.2109C>T, NM_005104.3:c.2109C>G, NM_005104.3:c.2109C>T, NM_001113182.3:c.2109C>G, NM_001113182.3:c.2109C>T, NM_001113182.2:c.2109C>G, NM_001113182.2:c.2109C>T, NM_001291986.2:c.1749C>G, NM_001291986.2:c.1749C>T, NM_001291986.1:c.1749C>G, NM_001291986.1:c.1749C>T, NM_001199456.2:c.1968C>G, NM_001199456.2:c.1968C>T, NM_001199456.1:c.1968C>G, NM_001199456.1:c.1968C>T, NM_001199455.1:c.2214C>G, NM_001199455.1:c.2214C>T, NT_113891.3:g.4392310C>G, NT_113891.3:g.4392310C>T, NT_113891.2:g.4392416C>G, NT_113891.2:g.4392416C>T, NT_167248.2:g.4174413C>G, NT_167248.2:g.4174413C>T, NT_167248.1:g.4180009C>G, NT_167248.1:g.4180009C>T, NT_167246.2:g.4399473C>G, NT_167246.2:g.4399473C>T, NT_167246.1:g.4405093C>G, NT_167246.1:g.4405093C>T, NT_167245.2:g.4223628C>G, NT_167245.2:g.4223628C>T, NT_167245.1:g.4229213C>G, NT_167245.1:g.4229213C>T, NT_167249.2:g.4429352C>G, NT_167249.2:g.4429352C>T, NT_167249.1:g.4428650C>G, NT_167249.1:g.4428650C>T, NR_037625.1:n.3815C>G, NR_037625.1:n.3815C>T

Select item 14905937792.

rs1490593779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32971635 (GRCh38)
6:32939412 (GRCh37)
Canonical SPDI:: NC_000006.12:32971634:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.32971635C>T, NC_000006.11:g.32939412C>T, NG_042801.1:g.7976C>T, NM_005104.4:c.-1264C>T, NM_005104.3:c.-1264C>T, NM_001113182.3:c.-1264C>T, NM_001113182.2:c.-1264C>T, NM_001291986.2:c.-1716C>T, NM_001291986.1:c.-1716C>T, NM_001199455.1:c.-1264C>T, NT_113891.3:g.4383844C>T, NT_113891.2:g.4383950C>T, NT_167248.2:g.4165960C>T, NT_167248.1:g.4171556C>T, NT_167246.2:g.4391019C>T, NT_167246.1:g.4396639C>T, NT_167247.2:g.4270692C>T, NT_167247.1:g.4276277C>T, NT_167249.2:g.4370882C>T, NT_167249.1:g.4370180C>T, NR_037625.1:n.351C>T, XM_047419222.1:c.-1264C>T, XM_047419223.1:c.-1264C>T

Select item 14905347753.

rs1490534775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32981035 (GRCh38)
6:32948812 (GRCh37)
Canonical SPDI:: NC_000006.12:32981034:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.32981035C>T, NC_000006.11:g.32948812C>T, NG_042801.1:g.17376C>T, NM_005104.4:c.*317C>T, NM_005104.3:c.*317C>T, NM_001113182.3:c.*317C>T, NM_001113182.2:c.*317C>T, NM_001291986.2:c.*317C>T, NM_001291986.1:c.*317C>T, NM_001199456.2:c.*317C>T, NM_001199456.1:c.*317C>T, NM_001199455.1:c.*317C>T, NT_113891.3:g.4393250C>T, NT_113891.2:g.4393356C>T, NT_167248.2:g.4175353C>T, NT_167248.1:g.4180949C>T, NT_167246.2:g.4400413C>T, NT_167246.1:g.4406033C>T, NT_167245.2:g.4224569C>T, NT_167245.1:g.4230154C>T, NT_167249.2:g.4430292C>T, NT_167249.1:g.4429590C>T, NR_037625.1:n.4429C>T

Select item 14896722074.

rs1489672207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32972053 (GRCh38)
6:32939830 (GRCh37)
Canonical SPDI:: NC_000006.12:32972052:C:G,NC_000006.12:32972052:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.32972053C>G, NC_000006.12:g.32972053C>T, NC_000006.11:g.32939830C>G, NC_000006.11:g.32939830C>T, NG_042801.1:g.8394C>G, NG_042801.1:g.8394C>T, NM_005104.4:c.-846C>G, NM_005104.4:c.-846C>T, NM_005104.3:c.-846C>G, NM_005104.3:c.-846C>T, NM_001113182.3:c.-846C>G, NM_001113182.3:c.-846C>T, NM_001113182.2:c.-846C>G, NM_001113182.2:c.-846C>T, NM_001291986.2:c.-1298C>G, NM_001291986.2:c.-1298C>T, NM_001291986.1:c.-1298C>G, NM_001291986.1:c.-1298C>T, NM_001199455.1:c.-846C>G, NM_001199455.1:c.-846C>T, NT_113891.3:g.4384262C>G, NT_113891.3:g.4384262C>T, NT_113891.2:g.4384368C>G, NT_113891.2:g.4384368C>T, NT_167248.2:g.4166378C>G, NT_167248.2:g.4166378C>T, NT_167248.1:g.4171974C>G, NT_167248.1:g.4171974C>T, NT_167246.2:g.4391437C>G, NT_167246.2:g.4391437C>T, NT_167246.1:g.4397057C>G, NT_167246.1:g.4397057C>T, NT_167247.2:g.4271110C>G, NT_167247.2:g.4271110C>T, NT_167247.1:g.4276695C>G, NT_167247.1:g.4276695C>T, NT_167249.2:g.4421304C>G, NT_167249.2:g.4421304C>T, NT_167249.1:g.4420602C>G, NT_167249.1:g.4420602C>T, NR_037625.1:n.769C>G, NR_037625.1:n.769C>T, XM_047419222.1:c.-846C>G, XM_047419222.1:c.-846C>T, XM_047419223.1:c.-846C>G, XM_047419223.1:c.-846C>T

Select item 14873336925.

rs1487333692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32979895 (GRCh38)
6:32947672 (GRCh37)
Canonical SPDI:: NC_000006.12:32979894:G:A
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32979895G>A, NC_000006.11:g.32947672G>A, NG_042801.1:g.16236G>A, NM_005104.4:c.1909G>A, NM_005104.3:c.1909G>A, NM_001113182.3:c.1909G>A, NM_001113182.2:c.1909G>A, NM_001291986.2:c.1549G>A, NM_001291986.1:c.1549G>A, NM_001199456.2:c.1768G>A, NM_001199456.1:c.1768G>A, NM_001199455.1:c.2014G>A, NT_113891.3:g.4392110G>A, NT_113891.2:g.4392216G>A, NT_167248.2:g.4174213G>A, NT_167248.1:g.4179809G>A, NT_167246.2:g.4399273G>A, NT_167246.1:g.4404893G>A, NT_167245.2:g.4223428G>A, NT_167245.1:g.4229013G>A, NT_167249.2:g.4429152G>A, NT_167249.1:g.4428450G>A, NR_037625.1:n.3615G>A, XM_047419222.1:c.*14G>A, NP_005095.1:p.Glu637Lys, NP_001106653.1:p.Glu637Lys, NP_001278915.1:p.Glu517Lys, NP_001186385.1:p.Glu590Lys, NP_001186384.1:p.Glu672Lys

Select item 14867782966.

rs1486778296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32979184 (GRCh38)
6:32946961 (GRCh37)
Canonical SPDI:: NC_000006.12:32979183:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32979184C>T, NC_000006.11:g.32946961C>T, NG_042801.1:g.15525C>T, NM_001199455.1:c.1936C>T, NT_113891.3:g.4391397C>T, NT_113891.2:g.4391503C>T, NT_167248.2:g.4173500C>T, NT_167248.1:g.4179096C>T, NT_167246.2:g.4398560C>T, NT_167246.1:g.4404180C>T, NT_167247.2:g.4278245C>T, NT_167247.1:g.4283830C>T, NT_167245.2:g.4222715C>T, NT_167245.1:g.4228300C>T, NT_167249.2:g.4428439C>T, NT_167249.1:g.4427737C>T, NP_001186384.1:p.Gln646Ter

Select item 14866857137.

rs1486685713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32977975 (GRCh38)
6:32945752 (GRCh37)
Canonical SPDI:: NC_000006.12:32977974:G:A
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32977975G>A, NC_000006.11:g.32945752G>A, NG_042801.1:g.14316G>A, NM_005104.4:c.1548G>A, NM_005104.3:c.1548G>A, NM_001113182.3:c.1548G>A, NM_001113182.2:c.1548G>A, NM_001291986.2:c.1188G>A, NM_001291986.1:c.1188G>A, NM_001199456.2:c.1407G>A, NM_001199456.1:c.1407G>A, NM_001199455.1:c.1548G>A, NT_113891.3:g.4390186G>A, NT_113891.2:g.4390292G>A, NT_167248.2:g.4172294G>A, NT_167248.1:g.4177890G>A, NT_167246.2:g.4397355G>A, NT_167246.1:g.4402975G>A, NT_167247.2:g.4277034G>A, NT_167247.1:g.4282619G>A, NT_167245.2:g.4221506G>A, NT_167245.1:g.4227091G>A, NT_167249.2:g.4427228G>A, NT_167249.1:g.4426526G>A, NR_037625.1:n.3254G>A, XM_047419222.1:c.1548G>A

Select item 14862726168.

rs1486272616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:32976381 (GRCh38)
6:32944158 (GRCh37)
Canonical SPDI:: NC_000006.12:32976380:T:G
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32976381T>G, NC_000006.11:g.32944158T>G, NG_042801.1:g.12722T>G, NM_005104.4:c.742T>G, NM_005104.3:c.742T>G, NM_001113182.3:c.742T>G, NM_001113182.2:c.742T>G, NM_001291986.2:c.382T>G, NM_001291986.1:c.382T>G, NM_001199456.2:c.601T>G, NM_001199456.1:c.601T>G, NM_001199455.1:c.742T>G, NT_113891.3:g.4388592T>G, NT_113891.2:g.4388698T>G, NT_167248.2:g.4170700T>G, NT_167248.1:g.4176296T>G, NT_167246.2:g.4395761T>G, NT_167246.1:g.4401381T>G, NT_167247.2:g.4275440T>G, NT_167247.1:g.4281025T>G, NT_167249.2:g.4425634T>G, NT_167249.1:g.4424932T>G, XM_047419222.1:c.742T>G, XM_047419223.1:c.742T>G, NR_037625.1:n.2448T>G, NP_005095.1:p.Ser248Ala, NP_001106653.1:p.Ser248Ala, NP_001278915.1:p.Ser128Ala, NP_001186385.1:p.Ser201Ala, NP_001186384.1:p.Ser248Ala, XP_047275178.1:p.Ser248Ala, XP_047275179.1:p.Ser248Ala

Select item 14857513479.

rs1485751347 has merged into rs5875429 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 6:32980829 (GRCh38)
6:32948606 (GRCh37)
Canonical SPDI:: NC_000006.12:32980821:CCCCCCCCC:CCCCCCC,NC_000006.12:32980821:CCCCCCCCC:CCCCCCCC,NC_000006.12:32980821:CCCCCCCCC:CCCCCCCCCC,NC_000006.12:32980821:CCCCCCCCC:CCCCCCCCCCC,NC_000006.12:32980821:CCCCCCCCC:CCCCCCCCCCCC
Gene:: BRD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
-=0.05152/258 (1000Genomes)
-=0.13538/502 (TWINSUK)
-=0.14764/569 (ALSPAC)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000006.12:g.32980829_32980830del, NC_000006.12:g.32980830del, NC_000006.12:g.32980830dup, NC_000006.12:g.32980829_32980830dup, NC_000006.12:g.32980828_32980830dup, NC_000006.11:g.32948606_32948607del, NC_000006.11:g.32948607del, NC_000006.11:g.32948607dup, NC_000006.11:g.32948606_32948607dup, NC_000006.11:g.32948605_32948607dup, NG_042801.1:g.17170_17171del, NG_042801.1:g.17171del, NG_042801.1:g.17171dup, NG_042801.1:g.17170_17171dup, NG_042801.1:g.17169_17171dup, NM_005104.4:c.*111_*112del, NM_005104.4:c.*112del, NM_005104.4:c.*112dup, NM_005104.4:c.*111_*112dup, NM_005104.4:c.*110_*112dup, NM_005104.3:c.*111_*112del, NM_005104.3:c.*112del, NM_005104.3:c.*112dup, NM_005104.3:c.*111_*112dup, NM_005104.3:c.*110_*112dup, NM_001113182.3:c.*111_*112del, NM_001113182.3:c.*112del, NM_001113182.3:c.*112dup, NM_001113182.3:c.*111_*112dup, NM_001113182.3:c.*110_*112dup, NM_001113182.2:c.*111_*112del, NM_001113182.2:c.*112del, NM_001113182.2:c.*112dup, NM_001113182.2:c.*111_*112dup, NM_001113182.2:c.*110_*112dup, NM_001291986.2:c.*111_*112del, NM_001291986.2:c.*112del, NM_001291986.2:c.*112dup, NM_001291986.2:c.*111_*112dup, NM_001291986.2:c.*110_*112dup, NM_001291986.1:c.*111_*112del, NM_001291986.1:c.*112del, NM_001291986.1:c.*112dup, NM_001291986.1:c.*111_*112dup, NM_001291986.1:c.*110_*112dup, NM_001199456.2:c.*111_*112del, NM_001199456.2:c.*112del, NM_001199456.2:c.*112dup, NM_001199456.2:c.*111_*112dup, NM_001199456.2:c.*110_*112dup, NM_001199456.1:c.*111_*112del, NM_001199456.1:c.*112del, NM_001199456.1:c.*112dup, NM_001199456.1:c.*111_*112dup, NM_001199456.1:c.*110_*112dup, NM_001199455.1:c.*111_*112del, NM_001199455.1:c.*112del, NM_001199455.1:c.*112dup, NM_001199455.1:c.*111_*112dup, NM_001199455.1:c.*110_*112dup, NT_113891.3:g.4393045T>C, NT_113891.3:g.4393044_4393045del, NT_113891.3:g.4393045del, NT_113891.3:g.4393045delinsCC, NT_113891.3:g.4393045delinsCCC, NT_113891.3:g.4393045delinsCCCC, NT_113891.2:g.4393151T>C, NT_113891.2:g.4393150_4393151del, NT_113891.2:g.4393151del, NT_113891.2:g.4393151delinsCC, NT_113891.2:g.4393151delinsCCC, NT_113891.2:g.4393151delinsCCCC, NT_167248.2:g.4175148T>C, NT_167248.2:g.4175147_4175148del, NT_167248.2:g.4175148del, NT_167248.2:g.4175148delinsCC, NT_167248.2:g.4175148delinsCCC, NT_167248.2:g.4175148delinsCCCC, NT_167248.1:g.4180744T>C, NT_167248.1:g.4180743_4180744del, NT_167248.1:g.4180744del, NT_167248.1:g.4180744delinsCC, NT_167248.1:g.4180744delinsCCC, NT_167248.1:g.4180744delinsCCCC, NT_167246.2:g.4400208T>C, NT_167246.2:g.4400207_4400208del, NT_167246.2:g.4400208del, NT_167246.2:g.4400208delinsCC, NT_167246.2:g.4400208delinsCCC, NT_167246.2:g.4400208delinsCCCC, NT_167246.1:g.4405828T>C, NT_167246.1:g.4405827_4405828del, NT_167246.1:g.4405828del, NT_167246.1:g.4405828delinsCC, NT_167246.1:g.4405828delinsCCC, NT_167246.1:g.4405828delinsCCCC, NT_167245.2:g.4224363_4224364del, NT_167245.2:g.4224364del, NT_167245.2:g.4224364dup, NT_167245.2:g.4224363_4224364dup, NT_167245.2:g.4224362_4224364dup, NT_167245.1:g.4229948_4229949del, NT_167245.1:g.4229949del, NT_167245.1:g.4229949dup, NT_167245.1:g.4229948_4229949dup, NT_167245.1:g.4229947_4229949dup, NT_167249.2:g.4430087T>C, NT_167249.2:g.4430086_4430087del, NT_167249.2:g.4430087del, NT_167249.2:g.4430087delinsCC, NT_167249.2:g.4430087delinsCCC, NT_167249.2:g.4430087delinsCCCC, NT_167249.1:g.4429385T>C, NT_167249.1:g.4429384_4429385del, NT_167249.1:g.4429385del, NT_167249.1:g.4429385delinsCC, NT_167249.1:g.4429385delinsCCC, NT_167249.1:g.4429385delinsCCCC, NR_037625.1:n.4223_4224del, NR_037625.1:n.4224del, NR_037625.1:n.4224dup, NR_037625.1:n.4223_4224dup, NR_037625.1:n.4222_4224dup

Select item 148560960010.

rs1485609600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32972732 (GRCh38)
6:32940509 (GRCh37)
Canonical SPDI:: NC_000006.12:32972731:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32972732C>T, NC_000006.11:g.32940509C>T, NG_042801.1:g.9073C>T, NM_005104.4:c.-167C>T, NM_005104.3:c.-167C>T, NM_001113182.3:c.-167C>T, NM_001113182.2:c.-167C>T, NM_001291986.2:c.-619C>T, NM_001291986.1:c.-619C>T, NM_001199455.1:c.-167C>T, NT_113891.3:g.4384941C>T, NT_113891.2:g.4385047C>T, NT_167248.2:g.4167057C>T, NT_167248.1:g.4172653C>T, NT_167246.2:g.4392116C>T, NT_167246.1:g.4397736C>T, NT_167247.2:g.4271789C>T, NT_167247.1:g.4277374C>T, NT_167249.2:g.4421983C>T, NT_167249.1:g.4421281C>T, NR_037625.1:n.1448C>T, XM_047419222.1:c.-167C>T, XM_047419223.1:c.-167C>T

Select item 148502556711.

rs1485025567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:32979185 (GRCh38)
6:32946962 (GRCh37)
Canonical SPDI:: NC_000006.12:32979184:A:G
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.32979185A>G, NC_000006.11:g.32946962A>G, NG_042801.1:g.15526A>G, NM_001199455.1:c.1937A>G, NT_113891.3:g.4391398A>G, NT_113891.2:g.4391504A>G, NT_167248.2:g.4173501A>G, NT_167248.1:g.4179097A>G, NT_167246.2:g.4398561A>G, NT_167246.1:g.4404181A>G, NT_167247.2:g.4278246A>G, NT_167247.1:g.4283831A>G, NT_167245.2:g.4222716A>G, NT_167245.1:g.4228301A>G, NT_167249.2:g.4428440A>G, NT_167249.1:g.4427738A>G, NP_001186384.1:p.Gln646Arg

Select item 148441934112.

rs1484419341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32976910 (GRCh38)
6:32944687 (GRCh37)
Canonical SPDI:: NC_000006.12:32976909:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32976910C>T, NC_000006.11:g.32944687C>T, NG_042801.1:g.13251C>T, NM_005104.4:c.1174C>T, NM_005104.3:c.1174C>T, NM_001113182.3:c.1174C>T, NM_001113182.2:c.1174C>T, NM_001291986.2:c.814C>T, NM_001291986.1:c.814C>T, NM_001199456.2:c.1033C>T, NM_001199456.1:c.1033C>T, NM_001199455.1:c.1174C>T, NT_113891.3:g.4389121C>T, NT_113891.2:g.4389227C>T, NT_167248.2:g.4171229C>T, NT_167248.1:g.4176825C>T, NT_167246.2:g.4396290C>T, NT_167246.1:g.4401910C>T, NT_167247.2:g.4275969C>T, NT_167247.1:g.4281554C>T, NT_167249.2:g.4426163C>T, NT_167249.1:g.4425461C>T, NR_037625.1:n.2880C>T, XM_047419222.1:c.1174C>T, XM_047419223.1:c.1174C>T, NP_005095.1:p.His392Tyr, NP_001106653.1:p.His392Tyr, NP_001278915.1:p.His272Tyr, NP_001186385.1:p.His345Tyr, NP_001186384.1:p.His392Tyr, XP_047275178.1:p.His392Tyr, XP_047275179.1:p.His392Tyr

Select item 148435827713.

rs1484358277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:32981188 (GRCh38)
6:32948965 (GRCh37)
Canonical SPDI:: NC_000006.12:32981187:A:C,NC_000006.12:32981187:A:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
T=0.002742/8 (KOREAN)
HGVS:: NC_000006.12:g.32981188A>C, NC_000006.12:g.32981188A>T, NC_000006.11:g.32948965A>C, NC_000006.11:g.32948965A>T, NG_042801.1:g.17529A>C, NG_042801.1:g.17529A>T, NM_005104.4:c.*470A>C, NM_005104.4:c.*470A>T, NM_005104.3:c.*470A>C, NM_005104.3:c.*470A>T, NM_001113182.3:c.*470A>C, NM_001113182.3:c.*470A>T, NM_001113182.2:c.*470A>C, NM_001113182.2:c.*470A>T, NM_001291986.2:c.*470A>C, NM_001291986.2:c.*470A>T, NM_001291986.1:c.*470A>C, NM_001291986.1:c.*470A>T, NM_001199456.2:c.*470A>C, NM_001199456.2:c.*470A>T, NM_001199456.1:c.*470A>C, NM_001199456.1:c.*470A>T, NM_001199455.1:c.*470A>C, NM_001199455.1:c.*470A>T, NT_113891.3:g.4393403A>C, NT_113891.3:g.4393403A>T, NT_113891.2:g.4393509A>C, NT_113891.2:g.4393509A>T, NT_167248.2:g.4175506A>C, NT_167248.2:g.4175506A>T, NT_167248.1:g.4181102A>C, NT_167248.1:g.4181102A>T, NT_167246.2:g.4400566A>C, NT_167246.2:g.4400566A>T, NT_167246.1:g.4406186A>C, NT_167246.1:g.4406186A>T, NT_167245.2:g.4224722A>C, NT_167245.2:g.4224722A>T, NT_167245.1:g.4230307A>C, NT_167245.1:g.4230307A>T, NT_167249.2:g.4430445A>C, NT_167249.2:g.4430445A>T, NT_167249.1:g.4429743A>C, NT_167249.1:g.4429743A>T, NR_037625.1:n.4582A>C, NR_037625.1:n.4582A>T

Select item 148418096814.

rs1484180968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32971826 (GRCh38)
6:32939603 (GRCh37)
Canonical SPDI:: NC_000006.12:32971825:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32971826C>T, NC_000006.11:g.32939603C>T, NG_042801.1:g.8167C>T, NM_005104.4:c.-1073C>T, NM_005104.3:c.-1073C>T, NM_001113182.3:c.-1073C>T, NM_001113182.2:c.-1073C>T, NM_001291986.2:c.-1525C>T, NM_001291986.1:c.-1525C>T, NM_001199455.1:c.-1073C>T, NT_113891.3:g.4384035C>T, NT_113891.2:g.4384141C>T, NT_167248.2:g.4166151C>T, NT_167248.1:g.4171747C>T, NT_167246.2:g.4391210C>T, NT_167246.1:g.4396830C>T, NT_167247.2:g.4270883C>T, NT_167247.1:g.4276468C>T, NT_167249.2:g.4371073C>T, NT_167249.1:g.4370371C>T, NR_037625.1:n.542C>T, XM_047419222.1:c.-1073C>T, XM_047419223.1:c.-1073C>T

Select item 148356050315.

rs1483560503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32972100 (GRCh38)
6:32939877 (GRCh37)
Canonical SPDI:: NC_000006.12:32972099:G:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32972100G>T, NC_000006.11:g.32939877G>T, NG_042801.1:g.8441G>T, NM_005104.4:c.-799G>T, NM_005104.3:c.-799G>T, NM_001113182.3:c.-799G>T, NM_001113182.2:c.-799G>T, NM_001291986.2:c.-1251G>T, NM_001291986.1:c.-1251G>T, NM_001199455.1:c.-799G>T, NT_113891.3:g.4384309G>T, NT_113891.2:g.4384415G>T, NT_167248.2:g.4166425G>T, NT_167248.1:g.4172021G>T, NT_167246.2:g.4391484G>T, NT_167246.1:g.4397104G>T, NT_167247.2:g.4271157G>T, NT_167247.1:g.4276742G>T, NT_167249.2:g.4421351G>T, NT_167249.1:g.4420649G>T, NR_037625.1:n.816G>T, XM_047419222.1:c.-799G>T, XM_047419223.1:c.-799G>T

Select item 148256385916.

rs1482563859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32971955 (GRCh38)
6:32939732 (GRCh37)
Canonical SPDI:: NC_000006.12:32971954:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32971955C>T, NC_000006.11:g.32939732C>T, NG_042801.1:g.8296C>T, NM_005104.4:c.-944C>T, NM_005104.3:c.-944C>T, NM_001113182.3:c.-944C>T, NM_001113182.2:c.-944C>T, NM_001291986.2:c.-1396C>T, NM_001291986.1:c.-1396C>T, NM_001199455.1:c.-944C>T, NT_113891.3:g.4384164C>T, NT_113891.2:g.4384270C>T, NT_167248.2:g.4166280C>T, NT_167248.1:g.4171876C>T, NT_167246.2:g.4391339C>T, NT_167246.1:g.4396959C>T, NT_167247.2:g.4271012C>T, NT_167247.1:g.4276597C>T, NT_167249.2:g.4371202C>T, NT_167249.1:g.4370500C>T, NR_037625.1:n.671C>T, XM_047419222.1:c.-944C>T, XM_047419223.1:c.-944C>T

Select item 148192288717.

rs1481922887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32972852 (GRCh38)
6:32940629 (GRCh37)
Canonical SPDI:: NC_000006.12:32972851:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32972852C>T, NC_000006.11:g.32940629C>T, NG_042801.1:g.9193C>T, NM_005104.4:c.-47C>T, NM_005104.3:c.-47C>T, NM_001113182.3:c.-47C>T, NM_001113182.2:c.-47C>T, NM_001291986.2:c.-499C>T, NM_001291986.1:c.-499C>T, NM_001199455.1:c.-47C>T, NT_113891.3:g.4385061C>T, NT_113891.2:g.4385167C>T, NT_167248.2:g.4167177C>T, NT_167248.1:g.4172773C>T, NT_167246.2:g.4392236C>T, NT_167246.1:g.4397856C>T, NT_167247.2:g.4271909C>T, NT_167247.1:g.4277494C>T, NT_167249.2:g.4422103C>T, NT_167249.1:g.4421401C>T, NR_037625.1:n.1568C>T, XM_047419222.1:c.-47C>T, XM_047419223.1:c.-47C>T

Select item 148081268218.

rs1480812682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32971740 (GRCh38)
6:32939517 (GRCh37)
Canonical SPDI:: NC_000006.12:32971739:G:A
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32971740G>A, NC_000006.11:g.32939517G>A, NG_042801.1:g.8081G>A, NM_005104.4:c.-1159G>A, NM_005104.3:c.-1159G>A, NM_001113182.3:c.-1159G>A, NM_001113182.2:c.-1159G>A, NM_001291986.2:c.-1611G>A, NM_001291986.1:c.-1611G>A, NM_001199455.1:c.-1159G>A, NT_113891.3:g.4383949G>A, NT_113891.2:g.4384055G>A, NT_167248.2:g.4166065G>A, NT_167248.1:g.4171661G>A, NT_167246.2:g.4391124G>A, NT_167246.1:g.4396744G>A, NT_167247.2:g.4270797G>A, NT_167247.1:g.4276382G>A, NT_167249.2:g.4370987G>A, NT_167249.1:g.4370285G>A, NR_037625.1:n.456G>A, XM_047419222.1:c.-1159G>A, XM_047419223.1:c.-1159G>A

Select item 148024509219.

rs1480245092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32976390 (GRCh38)
6:32944167 (GRCh37)
Canonical SPDI:: NC_000006.12:32976389:C:G,NC_000006.12:32976389:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32976390C>G, NC_000006.12:g.32976390C>T, NC_000006.11:g.32944167C>G, NC_000006.11:g.32944167C>T, NG_042801.1:g.12731C>G, NG_042801.1:g.12731C>T, NM_005104.4:c.751C>G, NM_005104.4:c.751C>T, NM_005104.3:c.751C>G, NM_005104.3:c.751C>T, NM_001113182.3:c.751C>G, NM_001113182.3:c.751C>T, NM_001113182.2:c.751C>G, NM_001113182.2:c.751C>T, NM_001291986.2:c.391C>G, NM_001291986.2:c.391C>T, NM_001291986.1:c.391C>G, NM_001291986.1:c.391C>T, NM_001199456.2:c.610C>G, NM_001199456.2:c.610C>T, NM_001199456.1:c.610C>G, NM_001199456.1:c.610C>T, NM_001199455.1:c.751C>G, NM_001199455.1:c.751C>T, NT_113891.3:g.4388601C>G, NT_113891.3:g.4388601C>T, NT_113891.2:g.4388707C>G, NT_113891.2:g.4388707C>T, NT_167248.2:g.4170709C>G, NT_167248.2:g.4170709C>T, NT_167248.1:g.4176305C>G, NT_167248.1:g.4176305C>T, NT_167246.2:g.4395770C>G, NT_167246.2:g.4395770C>T, NT_167246.1:g.4401390C>G, NT_167246.1:g.4401390C>T, NT_167247.2:g.4275449C>G, NT_167247.2:g.4275449C>T, NT_167247.1:g.4281034C>G, NT_167247.1:g.4281034C>T, NT_167249.2:g.4425643C>G, NT_167249.2:g.4425643C>T, NT_167249.1:g.4424941C>G, NT_167249.1:g.4424941C>T, NR_037625.1:n.2457C>G, NR_037625.1:n.2457C>T, XM_047419222.1:c.751C>G, XM_047419222.1:c.751C>T, XM_047419223.1:c.751C>G, XM_047419223.1:c.751C>T, NP_005095.1:p.Leu251Val, NP_005095.1:p.Leu251Phe, NP_001106653.1:p.Leu251Val, NP_001106653.1:p.Leu251Phe, NP_001278915.1:p.Leu131Val, NP_001278915.1:p.Leu131Phe, NP_001186385.1:p.Leu204Val, NP_001186385.1:p.Leu204Phe, NP_001186384.1:p.Leu251Val, NP_001186384.1:p.Leu251Phe, XP_047275178.1:p.Leu251Val, XP_047275178.1:p.Leu251Phe, XP_047275179.1:p.Leu251Val, XP_047275179.1:p.Leu251Phe

Select item 147946234520.

rs1479462345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:32977477 (GRCh38)
6:32945254 (GRCh37)
Canonical SPDI:: NC_000006.12:32977476:G:C
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32977477G>C, NC_000006.11:g.32945254G>C, NG_042801.1:g.13818G>C, NM_005104.4:c.1236G>C, NM_005104.3:c.1236G>C, NM_001113182.3:c.1236G>C, NM_001113182.2:c.1236G>C, NM_001291986.2:c.876G>C, NM_001291986.1:c.876G>C, NM_001199456.2:c.1095G>C, NM_001199456.1:c.1095G>C, NM_001199455.1:c.1236G>C, NT_113891.3:g.4389688G>C, NT_113891.2:g.4389794G>C, NT_167248.2:g.4171796G>C, NT_167248.1:g.4177392G>C, NT_167246.2:g.4396857G>C, NT_167246.1:g.4402477G>C, NT_167247.2:g.4276536G>C, NT_167247.1:g.4282121G>C, NT_167249.2:g.4426730G>C, NT_167249.1:g.4426028G>C, NR_037625.1:n.2942G>C, XM_047419222.1:c.1236G>C, XM_047419223.1:c.*212G>C, NP_005095.1:p.Gln412His, NP_001106653.1:p.Gln412His, NP_001278915.1:p.Gln292His, NP_001186385.1:p.Gln365His, NP_001186384.1:p.Gln412His, XP_047275178.1:p.Gln412His

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