SNP Links for Protein (Select 808175964) - SNP - NCBI

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Links from Protein

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Select item 14905485941.

rs1490548594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:84870741 (GRCh38)
2:85097865 (GRCh37)
Canonical SPDI:: NC_000002.12:84870740:T:C
Gene:: TRABD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.84870741T>C, NC_000002.11:g.85097865T>C, NM_001080824.3:c.153A>G, NM_001080824.2:c.153A>G, NM_001307978.2:c.153A>G, NM_001307978.1:c.153A>G, NM_001277053.2:c.153A>G, NM_001277053.1:c.153A>G, XM_047443257.1:c.153A>G

Select item 14839134762.

rs1483913476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:84870376 (GRCh38)
2:85097500 (GRCh37)
Canonical SPDI:: NC_000002.12:84870375:T:A,NC_000002.12:84870375:T:G
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.84870376T>A, NC_000002.12:g.84870376T>G, NC_000002.11:g.85097500T>A, NC_000002.11:g.85097500T>G, NM_001080824.3:c.518A>T, NM_001080824.3:c.518A>C, NM_001080824.2:c.518A>T, NM_001080824.2:c.518A>C, NM_001307978.2:c.518A>T, NM_001307978.2:c.518A>C, NM_001307978.1:c.518A>T, NM_001307978.1:c.518A>C, NM_001277053.2:c.518A>T, NM_001277053.2:c.518A>C, NM_001277053.1:c.518A>T, NM_001277053.1:c.518A>C, XM_047443257.1:c.518A>T, XM_047443257.1:c.518A>C, NP_001074293.1:p.Asn173Ile, NP_001074293.1:p.Asn173Thr, NP_001294907.1:p.Asn173Ile, NP_001294907.1:p.Asn173Thr, NP_001263982.1:p.Asn173Ile, NP_001263982.1:p.Asn173Thr, XP_047299213.1:p.Asn173Ile, XP_047299213.1:p.Asn173Thr

Select item 14837168353.

rs1483716835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:84839180 (GRCh38)
2:85066304 (GRCh37)
Canonical SPDI:: NC_000002.12:84839179:A:G
Gene:: TRABD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.84839180A>G, NC_000002.11:g.85066304A>G, NM_001080824.3:c.813T>C, NM_001080824.2:c.813T>C, NM_001307978.2:c.960T>C, NM_001307978.1:c.960T>C, NM_001277053.2:c.960T>C, NM_001277053.1:c.960T>C, XM_047443257.1:c.813T>C

Select item 14831601404.

rs1483160140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:84870428 (GRCh38)
2:85097552 (GRCh37)
Canonical SPDI:: NC_000002.12:84870427:T:C
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.84870428T>C, NC_000002.11:g.85097552T>C, NM_001080824.3:c.466A>G, NM_001080824.2:c.466A>G, NM_001307978.2:c.466A>G, NM_001307978.1:c.466A>G, NM_001277053.2:c.466A>G, NM_001277053.1:c.466A>G, XM_047443257.1:c.466A>G, NP_001074293.1:p.Ile156Val, NP_001294907.1:p.Ile156Val, NP_001263982.1:p.Ile156Val, XP_047299213.1:p.Ile156Val

Select item 14827373595.

rs1482737359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:84841967 (GRCh38)
2:85069091 (GRCh37)
Canonical SPDI:: NC_000002.12:84841966:C:A
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.84841967C>A, NC_000002.11:g.85069091C>A, NM_001307978.2:c.710G>T, NM_001307978.1:c.710G>T, NM_001277053.2:c.710G>T, NM_001277053.1:c.710G>T, NP_001294907.1:p.Ser237Ile, NP_001263982.1:p.Ser237Ile

Select item 14814408286.

rs1481440828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:84870508 (GRCh38)
2:85097632 (GRCh37)
Canonical SPDI:: NC_000002.12:84870507:T:A
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.84870508T>A, NC_000002.11:g.85097632T>A, NM_001080824.3:c.386A>T, NM_001080824.2:c.386A>T, NM_001307978.2:c.386A>T, NM_001307978.1:c.386A>T, NM_001277053.2:c.386A>T, NM_001277053.1:c.386A>T, XM_047443257.1:c.386A>T, NP_001074293.1:p.Tyr129Phe, NP_001294907.1:p.Tyr129Phe, NP_001263982.1:p.Tyr129Phe, XP_047299213.1:p.Tyr129Phe

Select item 14809054377.

rs1480905437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:84870700 (GRCh38)
2:85097824 (GRCh37)
Canonical SPDI:: NC_000002.12:84870699:C:T
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.84870700C>T, NC_000002.11:g.85097824C>T, NM_001080824.3:c.194G>A, NM_001080824.2:c.194G>A, NM_001307978.2:c.194G>A, NM_001307978.1:c.194G>A, NM_001277053.2:c.194G>A, NM_001277053.1:c.194G>A, XM_047443257.1:c.194G>A, NP_001074293.1:p.Arg65Gln, NP_001294907.1:p.Arg65Gln, NP_001263982.1:p.Arg65Gln, XP_047299213.1:p.Arg65Gln

Select item 14807412148.

rs1480741214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:84839220 (GRCh38)
2:85066344 (GRCh37)
Canonical SPDI:: NC_000002.12:84839219:C:G
Gene:: TRABD2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.84839220C>G, NC_000002.11:g.85066344C>G, NM_001080824.3:c.773G>C, NM_001080824.2:c.773G>C, NM_001307978.2:c.920G>C, NM_001307978.1:c.920G>C, NM_001277053.2:c.920G>C, NM_001277053.1:c.920G>C, XM_047443257.1:c.773G>C, NP_001074293.1:p.Arg258Thr, NP_001294907.1:p.Arg307Thr, NP_001263982.1:p.Arg307Thr, XP_047299213.1:p.Arg258Thr

Select item 14799237839.

rs1479923783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:84881004 (GRCh38)
2:85108128 (GRCh37)
Canonical SPDI:: NC_000002.12:84881003:G:A
Gene:: TRABD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.84881004G>A, NC_000002.11:g.85108128G>A, NM_001080824.3:c.36C>T, NM_001080824.2:c.36C>T, NM_001307978.2:c.36C>T, NM_001307978.1:c.36C>T, NM_001277053.2:c.36C>T, NM_001277053.1:c.36C>T, XM_047443257.1:c.36C>T

Select item 147698426810.

rs1476984268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:84839270 (GRCh38)
2:85066394 (GRCh37)
Canonical SPDI:: NC_000002.12:84839269:C:T
Gene:: TRABD2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.84839270C>T, NC_000002.11:g.85066394C>T, NM_001080824.3:c.723G>A, NM_001080824.2:c.723G>A, NM_001307978.2:c.870G>A, NM_001307978.1:c.870G>A, NM_001277053.2:c.870G>A, NM_001277053.1:c.870G>A, XM_047443257.1:c.723G>A

Select item 147290497111.

rs1472904971 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:84839188 (GRCh38)
2:85066312 (GRCh37)
Canonical SPDI:: NC_000002.12:84839187:CC:C
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.84839189del, NC_000002.11:g.85066313del, NM_001080824.3:c.805del, NM_001080824.2:c.805del, NM_001307978.2:c.952del, NM_001307978.1:c.952del, NM_001277053.2:c.952del, NM_001277053.1:c.952del, XM_047443257.1:c.805del, NP_001074293.1:p.Glu269fs, NP_001294907.1:p.Glu318fs, NP_001263982.1:p.Glu318fs, XP_047299213.1:p.Glu269fs

Select item 147211278212.

rs1472112782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:84870753 (GRCh38)
2:85097877 (GRCh37)
Canonical SPDI:: NC_000002.12:84870752:A:C
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.84870753A>C, NC_000002.11:g.85097877A>C, NM_001080824.3:c.141T>G, NM_001080824.2:c.141T>G, NM_001307978.2:c.141T>G, NM_001307978.1:c.141T>G, NM_001277053.2:c.141T>G, NM_001277053.1:c.141T>G, XM_047443257.1:c.141T>G, NP_001074293.1:p.Ile47Met, NP_001294907.1:p.Ile47Met, NP_001263982.1:p.Ile47Met, XP_047299213.1:p.Ile47Met

Select item 147100911913.

rs1471009119 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:84870571 (GRCh38)
2:85097695 (GRCh37)
Canonical SPDI:: NC_000002.12:84870570:CCC:CC
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.84870573del, NC_000002.11:g.85097697del, NM_001080824.3:c.323del, NM_001080824.2:c.323del, NM_001307978.2:c.323del, NM_001307978.1:c.323del, NM_001277053.2:c.323del, NM_001277053.1:c.323del, XM_047443257.1:c.323del, NP_001074293.1:p.Gly108fs, NP_001294907.1:p.Gly108fs, NP_001263982.1:p.Gly108fs, XP_047299213.1:p.Gly108fs

Select item 146860476414.

rs1468604764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGT [Show Flanks]
Chromosome:: 2:84870742 (GRCh38)
2:85097867 (GRCh37)
Canonical SPDI:: NC_000002.12:84870742:GGT:GGTGGT
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by cluster
MAF:: GGT=0.000004/1 (GnomAD_exomes)
GGT=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.84870743_84870745dup, NC_000002.11:g.85097867_85097869dup, NM_001080824.3:c.149_151dup, NM_001080824.2:c.149_151dup, NM_001307978.2:c.149_151dup, NM_001307978.1:c.149_151dup, NM_001277053.2:c.149_151dup, NM_001277053.1:c.149_151dup, XM_047443257.1:c.149_151dup, NP_001074293.1:p.Pro51_Pro52insHis, NP_001294907.1:p.Pro51_Pro52insHis, NP_001263982.1:p.Pro51_Pro52insHis, XP_047299213.1:p.Pro51_Pro52insHis

Select item 146576977615.

rs1465769776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:84870316 (GRCh38)
2:85097440 (GRCh37)
Canonical SPDI:: NC_000002.12:84870315:G:T
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.84870316G>T, NC_000002.11:g.85097440G>T, NM_001080824.3:c.578C>A, NM_001080824.2:c.578C>A, NM_001307978.2:c.578C>A, NM_001307978.1:c.578C>A, NM_001277053.2:c.578C>A, NM_001277053.1:c.578C>A, XM_047443257.1:c.578C>A, NP_001074293.1:p.Ala193Asp, NP_001294907.1:p.Ala193Asp, NP_001263982.1:p.Ala193Asp, XP_047299213.1:p.Ala193Asp

Select item 146503179616.

rs1465031796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:84880984 (GRCh38)
2:85108108 (GRCh37)
Canonical SPDI:: NC_000002.12:84880983:G:A
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.84880984G>A, NC_000002.11:g.85108108G>A, NM_001080824.3:c.56C>T, NM_001080824.2:c.56C>T, NM_001307978.2:c.56C>T, NM_001307978.1:c.56C>T, NM_001277053.2:c.56C>T, NM_001277053.1:c.56C>T, XM_047443257.1:c.56C>T, NP_001074293.1:p.Ala19Val, NP_001294907.1:p.Ala19Val, NP_001263982.1:p.Ala19Val, XP_047299213.1:p.Ala19Val

Select item 146346750617.

rs1463467506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:84841984 (GRCh38)
2:85069108 (GRCh37)
Canonical SPDI:: NC_000002.12:84841983:G:A
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000002.12:g.84841984G>A, NC_000002.11:g.85069108G>A, NM_001307978.2:c.693C>T, NM_001307978.1:c.693C>T, NM_001277053.2:c.693C>T, NM_001277053.1:c.693C>T

Select item 146307886418.

rs1463078864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:84880943 (GRCh38)
2:85108067 (GRCh37)
Canonical SPDI:: NC_000002.12:84880942:G:C
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.84880943G>C, NC_000002.11:g.85108067G>C, NM_001080824.3:c.97C>G, NM_001080824.2:c.97C>G, NM_001307978.2:c.97C>G, NM_001307978.1:c.97C>G, NM_001277053.2:c.97C>G, NM_001277053.1:c.97C>G, XM_047443257.1:c.97C>G, NP_001074293.1:p.Leu33Val, NP_001294907.1:p.Leu33Val, NP_001263982.1:p.Leu33Val, XP_047299213.1:p.Leu33Val

Select item 146246153119.

rs1462461531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:84870244 (GRCh38)
2:85097368 (GRCh37)
Canonical SPDI:: NC_000002.12:84870243:T:C
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_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_000002.12:g.84870244T>C, NC_000002.11:g.85097368T>C, NM_001080824.3:c.650A>G, NM_001080824.2:c.650A>G, NM_001307978.2:c.650A>G, NM_001307978.1:c.650A>G, NM_001277053.2:c.650A>G, NM_001277053.1:c.650A>G, XM_047443257.1:c.650A>G, NP_001074293.1:p.Asn217Ser, NP_001294907.1:p.Asn217Ser, NP_001263982.1:p.Asn217Ser, XP_047299213.1:p.Asn217Ser

Select item 146194164920.

rs1461941649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:84838234 (GRCh38)
2:85065358 (GRCh37)
Canonical SPDI:: NC_000002.12:84838233:C:T
Gene:: TRABD2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.84838234C>T, NC_000002.11:g.85065358C>T, NM_001307978.2:c.999G>A, NM_001307978.1:c.999G>A, XM_047443257.1:c.852G>A

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