SNP Links for Protein (Select 308522748) - SNP

Links from Protein

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Select item 14894007091.

rs1489400709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26385070 (GRCh38)
6:26385298 (GRCh37)
Canonical SPDI:: NC_000006.12:26385069:C:T
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26385070C>T, NC_000006.11:g.26385298C>T, NM_006995.5:c.150C>T, NM_006995.4:c.150C>T, XM_006714955.4:c.150C>T, XM_006714955.3:c.150C>T, XM_006714955.2:c.150C>T, XM_006714955.1:c.150C>T, XM_005248797.4:c.150C>T, XM_005248797.3:c.150C>T, XM_005248797.2:c.150C>T, XM_005248797.1:c.150C>T, XM_011514228.3:c.150C>T, XM_011514228.2:c.150C>T, XM_011514228.1:c.150C>T, XM_017010166.3:c.150C>T, XM_017010166.2:c.150C>T, XM_017010166.1:c.150C>T, NM_001197237.2:c.150C>T, NM_001197237.1:c.150C>T, NM_001197240.2:c.150C>T, NM_001197240.1:c.150C>T, NM_001197238.2:c.150C>T, NM_001197238.1:c.150C>T, XM_047418075.1:c.150C>T

Select item 14883250152.

rs1488325015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:26385095 (GRCh38)
6:26385323 (GRCh37)
Canonical SPDI:: NC_000006.12:26385094:C:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26385095C>A, NC_000006.11:g.26385323C>A, NM_006995.5:c.175C>A, NM_006995.4:c.175C>A, XM_006714955.4:c.175C>A, XM_006714955.3:c.175C>A, XM_006714955.2:c.175C>A, XM_006714955.1:c.175C>A, XM_005248797.4:c.175C>A, XM_005248797.3:c.175C>A, XM_005248797.2:c.175C>A, XM_005248797.1:c.175C>A, XM_011514228.3:c.175C>A, XM_011514228.2:c.175C>A, XM_011514228.1:c.175C>A, XM_017010166.3:c.175C>A, XM_017010166.2:c.175C>A, XM_017010166.1:c.175C>A, NM_001197237.2:c.175C>A, NM_001197237.1:c.175C>A, NM_001197240.2:c.175C>A, NM_001197240.1:c.175C>A, NM_001197238.2:c.175C>A, NM_001197238.1:c.175C>A, XM_047418075.1:c.175C>A, NP_008926.2:p.Pro59Thr, XP_006715018.1:p.Pro59Thr, XP_005248854.1:p.Pro59Thr, XP_011512530.1:p.Pro59Thr, XP_016865655.1:p.Pro59Thr, NP_001184166.1:p.Pro59Thr, NP_001184169.1:p.Pro59Thr, NP_001184167.1:p.Pro59Thr, XP_047274031.1:p.Pro59Thr

Select item 14881183243.

rs1488118324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26390173 (GRCh38)
6:26390401 (GRCh37)
Canonical SPDI:: NC_000006.12:26390172:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26390173G>A, NC_000006.11:g.26390401G>A, NM_006995.5:c.893G>A, NM_006995.4:c.893G>A, XM_005248798.5:c.545G>A, XM_005248798.4:c.545G>A, XM_005248798.3:c.545G>A, XM_005248798.2:c.545G>A, XM_005248798.1:c.545G>A, XM_006714955.4:c.893G>A, XM_006714955.3:c.893G>A, XM_006714955.2:c.893G>A, XM_006714955.1:c.893G>A, XM_005248797.4:c.893G>A, XM_005248797.3:c.893G>A, XM_005248797.2:c.893G>A, XM_005248797.1:c.893G>A, XM_011514231.4:c.263G>A, XM_011514231.3:c.263G>A, XM_011514231.2:c.263G>A, XM_011514231.1:c.263G>A, XM_011514228.3:c.893G>A, XM_011514228.2:c.893G>A, XM_011514228.1:c.893G>A, XM_017010166.3:c.707G>A, XM_017010166.2:c.707G>A, XM_017010166.1:c.707G>A, NM_181531.3:c.545G>A, NM_181531.2:c.545G>A, NM_001197237.2:c.893G>A, NM_001197237.1:c.893G>A, NM_001197240.2:c.611G>A, NM_001197240.1:c.611G>A, NM_001197239.2:c.263G>A, NM_001197239.1:c.263G>A, NM_001197238.2:c.893G>A, NM_001197238.1:c.893G>A, XM_047418075.1:c.707G>A, NP_008926.2:p.Gly298Glu, XP_005248855.1:p.Gly182Glu, XP_006715018.1:p.Gly298Glu, XP_005248854.1:p.Gly298Glu, XP_011512533.1:p.Gly88Glu, XP_011512530.1:p.Gly298Glu, XP_016865655.1:p.Gly236Glu, NP_853509.1:p.Gly182Glu, NP_001184166.1:p.Gly298Glu, NP_001184169.1:p.Gly204Glu, NP_001184168.1:p.Gly88Glu, NP_001184167.1:p.Gly298Glu, XP_047274031.1:p.Gly236Glu

Select item 14844499474.

rs1484449947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26385296 (GRCh38)
6:26385524 (GRCh37)
Canonical SPDI:: NC_000006.12:26385295:A:G
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26385296A>G, NC_000006.11:g.26385524A>G, NM_006995.5:c.376A>G, NM_006995.4:c.376A>G, XM_006714955.4:c.376A>G, XM_006714955.3:c.376A>G, XM_006714955.2:c.376A>G, XM_006714955.1:c.376A>G, XM_005248797.4:c.376A>G, XM_005248797.3:c.376A>G, XM_005248797.2:c.376A>G, XM_005248797.1:c.376A>G, XM_011514228.3:c.376A>G, XM_011514228.2:c.376A>G, XM_011514228.1:c.376A>G, XM_017010166.3:c.376A>G, XM_017010166.2:c.376A>G, XM_017010166.1:c.376A>G, NM_001197237.2:c.376A>G, NM_001197237.1:c.376A>G, NM_001197240.2:c.376A>G, NM_001197240.1:c.376A>G, NM_001197238.2:c.376A>G, NM_001197238.1:c.376A>G, XM_047418075.1:c.376A>G, NP_008926.2:p.Ile126Val, XP_006715018.1:p.Ile126Val, XP_005248854.1:p.Ile126Val, XP_011512530.1:p.Ile126Val, XP_016865655.1:p.Ile126Val, NP_001184166.1:p.Ile126Val, NP_001184169.1:p.Ile126Val, NP_001184167.1:p.Ile126Val, XP_047274031.1:p.Ile126Val

Select item 14790576155.

rs1479057615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26385022 (GRCh38)
6:26385250 (GRCh37)
Canonical SPDI:: NC_000006.12:26385021:T:C
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.26385022T>C, NC_000006.11:g.26385250T>C, NM_006995.5:c.102T>C, NM_006995.4:c.102T>C, XM_006714955.4:c.102T>C, XM_006714955.3:c.102T>C, XM_006714955.2:c.102T>C, XM_006714955.1:c.102T>C, XM_005248797.4:c.102T>C, XM_005248797.3:c.102T>C, XM_005248797.2:c.102T>C, XM_005248797.1:c.102T>C, XM_011514228.3:c.102T>C, XM_011514228.2:c.102T>C, XM_011514228.1:c.102T>C, XM_017010166.3:c.102T>C, XM_017010166.2:c.102T>C, XM_017010166.1:c.102T>C, NM_001197237.2:c.102T>C, NM_001197237.1:c.102T>C, NM_001197240.2:c.102T>C, NM_001197240.1:c.102T>C, NM_001197238.2:c.102T>C, NM_001197238.1:c.102T>C, XM_047418075.1:c.102T>C

Select item 14773622476.

rs1477362247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26385113 (GRCh38)
6:26385341 (GRCh37)
Canonical SPDI:: NC_000006.12:26385112:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26385113G>A, NC_000006.11:g.26385341G>A, NM_006995.5:c.193G>A, NM_006995.4:c.193G>A, XM_006714955.4:c.193G>A, XM_006714955.3:c.193G>A, XM_006714955.2:c.193G>A, XM_006714955.1:c.193G>A, XM_005248797.4:c.193G>A, XM_005248797.3:c.193G>A, XM_005248797.2:c.193G>A, XM_005248797.1:c.193G>A, XM_011514228.3:c.193G>A, XM_011514228.2:c.193G>A, XM_011514228.1:c.193G>A, XM_017010166.3:c.193G>A, XM_017010166.2:c.193G>A, XM_017010166.1:c.193G>A, NM_001197237.2:c.193G>A, NM_001197237.1:c.193G>A, NM_001197240.2:c.193G>A, NM_001197240.1:c.193G>A, NM_001197238.2:c.193G>A, NM_001197238.1:c.193G>A, XM_047418075.1:c.193G>A, NP_008926.2:p.Asp65Asn, XP_006715018.1:p.Asp65Asn, XP_005248854.1:p.Asp65Asn, XP_011512530.1:p.Asp65Asn, XP_016865655.1:p.Asp65Asn, NP_001184166.1:p.Asp65Asn, NP_001184169.1:p.Asp65Asn, NP_001184167.1:p.Asp65Asn, XP_047274031.1:p.Asp65Asn

Select item 14766755377.

rs1476675537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26388290 (GRCh38)
6:26388518 (GRCh37)
Canonical SPDI:: NC_000006.12:26388289:T:C
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26388290T>C, NC_000006.11:g.26388518T>C, NM_006995.5:c.720T>C, NM_006995.4:c.720T>C, XM_005248798.5:c.372T>C, XM_005248798.4:c.372T>C, XM_005248798.3:c.372T>C, XM_005248798.2:c.372T>C, XM_005248798.1:c.372T>C, XM_006714955.4:c.720T>C, XM_006714955.3:c.720T>C, XM_006714955.2:c.720T>C, XM_006714955.1:c.720T>C, XM_005248797.4:c.720T>C, XM_005248797.3:c.720T>C, XM_005248797.2:c.720T>C, XM_005248797.1:c.720T>C, XM_011514228.3:c.720T>C, XM_011514228.2:c.720T>C, XM_011514228.1:c.720T>C, XM_017010166.3:c.534T>C, XM_017010166.2:c.534T>C, XM_017010166.1:c.534T>C, NM_181531.3:c.372T>C, NM_181531.2:c.372T>C, NM_001197237.2:c.720T>C, NM_001197237.1:c.720T>C, NM_001197238.2:c.720T>C, NM_001197238.1:c.720T>C, XM_047418075.1:c.534T>C

Select item 14758081868.

rs1475808186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26388218 (GRCh38)
6:26388446 (GRCh37)
Canonical SPDI:: NC_000006.12:26388217:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26388218G>A, NC_000006.11:g.26388446G>A, NM_006995.5:c.648G>A, NM_006995.4:c.648G>A, XM_005248798.5:c.300G>A, XM_005248798.4:c.300G>A, XM_005248798.3:c.300G>A, XM_005248798.2:c.300G>A, XM_005248798.1:c.300G>A, XM_006714955.4:c.648G>A, XM_006714955.3:c.648G>A, XM_006714955.2:c.648G>A, XM_006714955.1:c.648G>A, XM_005248797.4:c.648G>A, XM_005248797.3:c.648G>A, XM_005248797.2:c.648G>A, XM_005248797.1:c.648G>A, XM_011514228.3:c.648G>A, XM_011514228.2:c.648G>A, XM_011514228.1:c.648G>A, XM_017010166.3:c.462G>A, XM_017010166.2:c.462G>A, XM_017010166.1:c.462G>A, NM_181531.3:c.300G>A, NM_181531.2:c.300G>A, NM_001197237.2:c.648G>A, NM_001197237.1:c.648G>A, NM_001197238.2:c.648G>A, NM_001197238.1:c.648G>A, XM_047418075.1:c.462G>A

Select item 14757225239.

rs1475722523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26385205 (GRCh38)
6:26385433 (GRCh37)
Canonical SPDI:: NC_000006.12:26385204:G:A,NC_000006.12:26385204:G:T
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
A=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.26385205G>A, NC_000006.12:g.26385205G>T, NC_000006.11:g.26385433G>A, NC_000006.11:g.26385433G>T, NM_006995.5:c.285G>A, NM_006995.5:c.285G>T, NM_006995.4:c.285G>A, NM_006995.4:c.285G>T, XM_006714955.4:c.285G>A, XM_006714955.4:c.285G>T, XM_006714955.3:c.285G>A, XM_006714955.3:c.285G>T, XM_006714955.2:c.285G>A, XM_006714955.2:c.285G>T, XM_006714955.1:c.285G>A, XM_006714955.1:c.285G>T, XM_005248797.4:c.285G>A, XM_005248797.4:c.285G>T, XM_005248797.3:c.285G>A, XM_005248797.3:c.285G>T, XM_005248797.2:c.285G>A, XM_005248797.2:c.285G>T, XM_005248797.1:c.285G>A, XM_005248797.1:c.285G>T, XM_011514228.3:c.285G>A, XM_011514228.3:c.285G>T, XM_011514228.2:c.285G>A, XM_011514228.2:c.285G>T, XM_011514228.1:c.285G>A, XM_011514228.1:c.285G>T, XM_017010166.3:c.285G>A, XM_017010166.3:c.285G>T, XM_017010166.2:c.285G>A, XM_017010166.2:c.285G>T, XM_017010166.1:c.285G>A, XM_017010166.1:c.285G>T, NM_001197237.2:c.285G>A, NM_001197237.2:c.285G>T, NM_001197237.1:c.285G>A, NM_001197237.1:c.285G>T, NM_001197240.2:c.285G>A, NM_001197240.2:c.285G>T, NM_001197240.1:c.285G>A, NM_001197240.1:c.285G>T, NM_001197238.2:c.285G>A, NM_001197238.2:c.285G>T, NM_001197238.1:c.285G>A, NM_001197238.1:c.285G>T, XM_047418075.1:c.285G>A, XM_047418075.1:c.285G>T, NP_008926.2:p.Glu95Asp, XP_006715018.1:p.Glu95Asp, XP_005248854.1:p.Glu95Asp, XP_011512530.1:p.Glu95Asp, XP_016865655.1:p.Glu95Asp, NP_001184166.1:p.Glu95Asp, NP_001184169.1:p.Glu95Asp, NP_001184167.1:p.Glu95Asp, XP_047274031.1:p.Glu95Asp

Select item 146886836610.

rs1468868366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26388131 (GRCh38)
6:26388359 (GRCh37)
Canonical SPDI:: NC_000006.12:26388130:T:C
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26388131T>C, NC_000006.11:g.26388359T>C, NM_006995.5:c.561T>C, NM_006995.4:c.561T>C, XM_005248798.5:c.213T>C, XM_005248798.4:c.213T>C, XM_005248798.3:c.213T>C, XM_005248798.2:c.213T>C, XM_005248798.1:c.213T>C, XM_006714955.4:c.561T>C, XM_006714955.3:c.561T>C, XM_006714955.2:c.561T>C, XM_006714955.1:c.561T>C, XM_005248797.4:c.561T>C, XM_005248797.3:c.561T>C, XM_005248797.2:c.561T>C, XM_005248797.1:c.561T>C, XM_011514228.3:c.561T>C, XM_011514228.2:c.561T>C, XM_011514228.1:c.561T>C, NM_181531.3:c.213T>C, NM_181531.2:c.213T>C, NM_001197237.2:c.561T>C, NM_001197237.1:c.561T>C, NM_001197238.2:c.561T>C, NM_001197238.1:c.561T>C

Select item 146878190911.

rs1468781909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26388134 (GRCh38)
6:26388362 (GRCh37)
Canonical SPDI:: NC_000006.12:26388133:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26388134G>A, NC_000006.11:g.26388362G>A, NM_006995.5:c.564G>A, NM_006995.4:c.564G>A, XM_005248798.5:c.216G>A, XM_005248798.4:c.216G>A, XM_005248798.3:c.216G>A, XM_005248798.2:c.216G>A, XM_005248798.1:c.216G>A, XM_006714955.4:c.564G>A, XM_006714955.3:c.564G>A, XM_006714955.2:c.564G>A, XM_006714955.1:c.564G>A, XM_005248797.4:c.564G>A, XM_005248797.3:c.564G>A, XM_005248797.2:c.564G>A, XM_005248797.1:c.564G>A, XM_011514228.3:c.564G>A, XM_011514228.2:c.564G>A, XM_011514228.1:c.564G>A, NM_181531.3:c.216G>A, NM_181531.2:c.216G>A, NM_001197237.2:c.564G>A, NM_001197237.1:c.564G>A, NM_001197238.2:c.564G>A, NM_001197238.1:c.564G>A

Select item 146753374512.

rs1467533745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26390054 (GRCh38)
6:26390282 (GRCh37)
Canonical SPDI:: NC_000006.12:26390053:C:T
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000006.12:g.26390054C>T, NC_000006.11:g.26390282C>T, NM_006995.5:c.774C>T, NM_006995.4:c.774C>T, XM_005248798.5:c.426C>T, XM_005248798.4:c.426C>T, XM_005248798.3:c.426C>T, XM_005248798.2:c.426C>T, XM_005248798.1:c.426C>T, XM_006714955.4:c.774C>T, XM_006714955.3:c.774C>T, XM_006714955.2:c.774C>T, XM_006714955.1:c.774C>T, XM_005248797.4:c.774C>T, XM_005248797.3:c.774C>T, XM_005248797.2:c.774C>T, XM_005248797.1:c.774C>T, XM_011514231.4:c.144C>T, XM_011514231.3:c.144C>T, XM_011514231.2:c.144C>T, XM_011514231.1:c.144C>T, XM_011514228.3:c.774C>T, XM_011514228.2:c.774C>T, XM_011514228.1:c.774C>T, XM_017010166.3:c.588C>T, XM_017010166.2:c.588C>T, XM_017010166.1:c.588C>T, NM_181531.3:c.426C>T, NM_181531.2:c.426C>T, NM_001197237.2:c.774C>T, NM_001197237.1:c.774C>T, NM_001197240.2:c.492C>T, NM_001197240.1:c.492C>T, NM_001197239.2:c.144C>T, NM_001197239.1:c.144C>T, NM_001197238.2:c.774C>T, NM_001197238.1:c.774C>T, XM_047418075.1:c.588C>T

Select item 146300906213.

rs1463009062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26390099 (GRCh38)
6:26390327 (GRCh37)
Canonical SPDI:: NC_000006.12:26390098:T:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26390099T>A, NC_000006.11:g.26390327T>A, NM_006995.5:c.819T>A, NM_006995.4:c.819T>A, XM_005248798.5:c.471T>A, XM_005248798.4:c.471T>A, XM_005248798.3:c.471T>A, XM_005248798.2:c.471T>A, XM_005248798.1:c.471T>A, XM_006714955.4:c.819T>A, XM_006714955.3:c.819T>A, XM_006714955.2:c.819T>A, XM_006714955.1:c.819T>A, XM_005248797.4:c.819T>A, XM_005248797.3:c.819T>A, XM_005248797.2:c.819T>A, XM_005248797.1:c.819T>A, XM_011514231.4:c.189T>A, XM_011514231.3:c.189T>A, XM_011514231.2:c.189T>A, XM_011514231.1:c.189T>A, XM_011514228.3:c.819T>A, XM_011514228.2:c.819T>A, XM_011514228.1:c.819T>A, XM_017010166.3:c.633T>A, XM_017010166.2:c.633T>A, XM_017010166.1:c.633T>A, NM_181531.3:c.471T>A, NM_181531.2:c.471T>A, NM_001197237.2:c.819T>A, NM_001197237.1:c.819T>A, NM_001197240.2:c.537T>A, NM_001197240.1:c.537T>A, NM_001197239.2:c.189T>A, NM_001197239.1:c.189T>A, NM_001197238.2:c.819T>A, NM_001197238.1:c.819T>A, XM_047418075.1:c.633T>A

Select item 145561192614.

rs1455611926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26388067 (GRCh38)
6:26388295 (GRCh37)
Canonical SPDI:: NC_000006.12:26388066:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26388067G>A, NC_000006.11:g.26388295G>A, NM_006995.5:c.497G>A, NM_006995.4:c.497G>A, XM_005248798.5:c.149G>A, XM_005248798.4:c.149G>A, XM_005248798.3:c.149G>A, XM_005248798.2:c.149G>A, XM_005248798.1:c.149G>A, XM_006714955.4:c.497G>A, XM_006714955.3:c.497G>A, XM_006714955.2:c.497G>A, XM_006714955.1:c.497G>A, XM_005248797.4:c.497G>A, XM_005248797.3:c.497G>A, XM_005248797.2:c.497G>A, XM_005248797.1:c.497G>A, XM_011514228.3:c.497G>A, XM_011514228.2:c.497G>A, XM_011514228.1:c.497G>A, NM_181531.3:c.149G>A, NM_181531.2:c.149G>A, NM_001197237.2:c.497G>A, NM_001197237.1:c.497G>A, NM_001197238.2:c.497G>A, NM_001197238.1:c.497G>A, NP_008926.2:p.Trp166Ter, XP_005248855.1:p.Trp50Ter, XP_006715018.1:p.Trp166Ter, XP_005248854.1:p.Trp166Ter, XP_011512530.1:p.Trp166Ter, NP_853509.1:p.Trp50Ter, NP_001184166.1:p.Trp166Ter, NP_001184167.1:p.Trp166Ter

Select item 145275508715.

rs1452755087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:26383853 (GRCh38)
6:26384081 (GRCh37)
Canonical SPDI:: NC_000006.12:26383852:T:G
Gene:: BTN2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.26383853T>G, NC_000006.11:g.26384081T>G, NM_006995.5:c.32T>G, NM_006995.4:c.32T>G, XM_005248798.5:c.32T>G, XM_005248798.4:c.32T>G, XM_005248798.3:c.32T>G, XM_005248798.2:c.32T>G, XM_005248798.1:c.32T>G, XM_006714955.4:c.32T>G, XM_006714955.3:c.32T>G, XM_006714955.2:c.32T>G, XM_006714955.1:c.32T>G, XM_005248797.4:c.32T>G, XM_005248797.3:c.32T>G, XM_005248797.2:c.32T>G, XM_005248797.1:c.32T>G, XM_011514231.4:c.32T>G, XM_011514231.3:c.32T>G, XM_011514231.2:c.32T>G, XM_011514231.1:c.32T>G, XM_011514228.3:c.32T>G, XM_011514228.2:c.32T>G, XM_011514228.1:c.32T>G, XM_017010166.3:c.32T>G, XM_017010166.2:c.32T>G, XM_017010166.1:c.32T>G, NM_181531.3:c.32T>G, NM_181531.2:c.32T>G, NM_001197237.2:c.32T>G, NM_001197237.1:c.32T>G, NM_001197240.2:c.32T>G, NM_001197240.1:c.32T>G, NM_001197239.2:c.32T>G, NM_001197239.1:c.32T>G, NM_001197238.2:c.32T>G, NM_001197238.1:c.32T>G, XM_047418075.1:c.32T>G, NP_008926.2:p.Leu11Arg, XP_005248855.1:p.Leu11Arg, XP_006715018.1:p.Leu11Arg, XP_005248854.1:p.Leu11Arg, XP_011512533.1:p.Leu11Arg, XP_011512530.1:p.Leu11Arg, XP_016865655.1:p.Leu11Arg, NP_853509.1:p.Leu11Arg, NP_001184166.1:p.Leu11Arg, NP_001184169.1:p.Leu11Arg, NP_001184168.1:p.Leu11Arg, NP_001184167.1:p.Leu11Arg, XP_047274031.1:p.Leu11Arg

Select item 145032854516.

rs1450328545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26385169 (GRCh38)
6:26385397 (GRCh37)
Canonical SPDI:: NC_000006.12:26385168:G:C
Gene:: BTN2A2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26385169G>C, NC_000006.11:g.26385397G>C, NM_006995.5:c.249G>C, NM_006995.4:c.249G>C, XM_006714955.4:c.249G>C, XM_006714955.3:c.249G>C, XM_006714955.2:c.249G>C, XM_006714955.1:c.249G>C, XM_005248797.4:c.249G>C, XM_005248797.3:c.249G>C, XM_005248797.2:c.249G>C, XM_005248797.1:c.249G>C, XM_011514228.3:c.249G>C, XM_011514228.2:c.249G>C, XM_011514228.1:c.249G>C, XM_017010166.3:c.249G>C, XM_017010166.2:c.249G>C, XM_017010166.1:c.249G>C, NM_001197237.2:c.249G>C, NM_001197237.1:c.249G>C, NM_001197240.2:c.249G>C, NM_001197240.1:c.249G>C, NM_001197238.2:c.249G>C, NM_001197238.1:c.249G>C, XM_047418075.1:c.249G>C, NP_008926.2:p.Lys83Asn, XP_006715018.1:p.Lys83Asn, XP_005248854.1:p.Lys83Asn, XP_011512530.1:p.Lys83Asn, XP_016865655.1:p.Lys83Asn, NP_001184166.1:p.Lys83Asn, NP_001184169.1:p.Lys83Asn, NP_001184167.1:p.Lys83Asn, XP_047274031.1:p.Lys83Asn

Select item 144957436217.

rs1449574362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26394328 (GRCh38)
6:26394556 (GRCh37)
Canonical SPDI:: NC_000006.12:26394327:A:G
Gene:: BTN2A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26394328A>G, NC_000006.11:g.26394556A>G, NM_006995.5:c.*1361A>G, NM_006995.4:c.*1361A>G, XM_005248798.5:c.*1361A>G, XM_005248798.3:c.*1361A>G, XM_005248798.2:c.*1361A>G, XM_005248798.1:c.*1361A>G, XM_006714955.4:c.*2100A>G, XM_005248797.4:c.*1361A>G, XM_005248797.2:c.*1361A>G, XM_011514231.4:c.*1361A>G, XM_011514231.1:c.*1361A>G, XM_011514228.3:c.*1361A>G, XM_011514228.1:c.*1361A>G, XM_017010166.3:c.*1361A>G, NM_181531.3:c.*1361A>G, NM_181531.2:c.*1361A>G, NM_001197237.2:c.*1361A>G, NM_001197237.1:c.*1361A>G, NM_001197240.2:c.*2033A>G, NM_001197240.1:c.*2033A>G, NM_001197239.2:c.*1361A>G, NM_001197239.1:c.*1361A>G, NM_001197238.2:c.1010A>G, NM_001197238.1:c.1010A>G, XM_047418075.1:c.*4058A>G, NP_001184167.1:p.Ter337Trp

Select item 144832325018.

rs1448323250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26383834 (GRCh38)
6:26384062 (GRCh37)
Canonical SPDI:: NC_000006.12:26383833:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26383834G>A, NC_000006.11:g.26384062G>A, NM_006995.5:c.13G>A, NM_006995.4:c.13G>A, XM_005248798.5:c.13G>A, XM_005248798.4:c.13G>A, XM_005248798.3:c.13G>A, XM_005248798.2:c.13G>A, XM_005248798.1:c.13G>A, XM_006714955.4:c.13G>A, XM_006714955.3:c.13G>A, XM_006714955.2:c.13G>A, XM_006714955.1:c.13G>A, XM_005248797.4:c.13G>A, XM_005248797.3:c.13G>A, XM_005248797.2:c.13G>A, XM_005248797.1:c.13G>A, XM_011514231.4:c.13G>A, XM_011514231.3:c.13G>A, XM_011514231.2:c.13G>A, XM_011514231.1:c.13G>A, XM_011514228.3:c.13G>A, XM_011514228.2:c.13G>A, XM_011514228.1:c.13G>A, XM_017010166.3:c.13G>A, XM_017010166.2:c.13G>A, XM_017010166.1:c.13G>A, NM_181531.3:c.13G>A, NM_181531.2:c.13G>A, NM_001197237.2:c.13G>A, NM_001197237.1:c.13G>A, NM_001197240.2:c.13G>A, NM_001197240.1:c.13G>A, NM_001197239.2:c.13G>A, NM_001197239.1:c.13G>A, NM_001197238.2:c.13G>A, NM_001197238.1:c.13G>A, XM_047418075.1:c.13G>A, NP_008926.2:p.Ala5Thr, XP_005248855.1:p.Ala5Thr, XP_006715018.1:p.Ala5Thr, XP_005248854.1:p.Ala5Thr, XP_011512533.1:p.Ala5Thr, XP_011512530.1:p.Ala5Thr, XP_016865655.1:p.Ala5Thr, NP_853509.1:p.Ala5Thr, NP_001184166.1:p.Ala5Thr, NP_001184169.1:p.Ala5Thr, NP_001184168.1:p.Ala5Thr, NP_001184167.1:p.Ala5Thr, XP_047274031.1:p.Ala5Thr

Select item 144511089619.

rs1445110896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26388122 (GRCh38)
6:26388350 (GRCh37)
Canonical SPDI:: NC_000006.12:26388121:C:T
Gene:: BTN2A2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26388122C>T, NC_000006.11:g.26388350C>T, NM_006995.5:c.552C>T, NM_006995.4:c.552C>T, XM_005248798.5:c.204C>T, XM_005248798.4:c.204C>T, XM_005248798.3:c.204C>T, XM_005248798.2:c.204C>T, XM_005248798.1:c.204C>T, XM_006714955.4:c.552C>T, XM_006714955.3:c.552C>T, XM_006714955.2:c.552C>T, XM_006714955.1:c.552C>T, XM_005248797.4:c.552C>T, XM_005248797.3:c.552C>T, XM_005248797.2:c.552C>T, XM_005248797.1:c.552C>T, XM_011514228.3:c.552C>T, XM_011514228.2:c.552C>T, XM_011514228.1:c.552C>T, NM_181531.3:c.204C>T, NM_181531.2:c.204C>T, NM_001197237.2:c.552C>T, NM_001197237.1:c.552C>T, NM_001197238.2:c.552C>T, NM_001197238.1:c.552C>T

Select item 144063094520.

rs1440630945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26388153 (GRCh38)
6:26388381 (GRCh37)
Canonical SPDI:: NC_000006.12:26388152:G:A
Gene:: BTN2A2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26388153G>A, NC_000006.11:g.26388381G>A, NM_006995.5:c.583G>A, NM_006995.4:c.583G>A, XM_005248798.5:c.235G>A, XM_005248798.4:c.235G>A, XM_005248798.3:c.235G>A, XM_005248798.2:c.235G>A, XM_005248798.1:c.235G>A, XM_006714955.4:c.583G>A, XM_006714955.3:c.583G>A, XM_006714955.2:c.583G>A, XM_006714955.1:c.583G>A, XM_005248797.4:c.583G>A, XM_005248797.3:c.583G>A, XM_005248797.2:c.583G>A, XM_005248797.1:c.583G>A, XM_011514228.3:c.583G>A, XM_011514228.2:c.583G>A, XM_011514228.1:c.583G>A, NM_181531.3:c.235G>A, NM_181531.2:c.235G>A, NM_001197237.2:c.583G>A, NM_001197237.1:c.583G>A, NM_001197238.2:c.583G>A, NM_001197238.1:c.583G>A, NP_008926.2:p.Glu195Lys, XP_005248855.1:p.Glu79Lys, XP_006715018.1:p.Glu195Lys, XP_005248854.1:p.Glu195Lys, XP_011512530.1:p.Glu195Lys, NP_853509.1:p.Glu79Lys, NP_001184166.1:p.Glu195Lys, NP_001184167.1:p.Glu195Lys

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