Canonical Allele Identifier: CA350453971

Gene: BARD1

Linked Data

• ClinVar Variation Id: 923316
• ClinVar RCV Id: RCV001183891
• dbSNP Id: rs1463551188
• gnomAD v2: 2-215645454-T-C
• gnomAD v4: 2-214780730-T-C
• MyVariant Identifiers: chr2:g.215645454T>C (hg19) ; chr2:g.214780730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780730T>C , CM000664.2:g.214780730T>C	GRCh38
NC_000002.11:g.215645454T>C , CM000664.1:g.215645454T>C	GRCh37
NC_000002.10:g.215353699T>C	NCBI36
NG_012047.2:g.33975A>G
NG_012047.3:g.33982A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1144A>G MANE Select	ENSP00000260947.4:p.Asn382Asp
ENST00000421162.2:c.215+16331A>G	ENSP00000392245.2:n.215+16331A>G
ENST00000613192.2:c.158+28682A>G	ENSP00000483275.2:n.158+28682A>G
ENST00000613374.5:c.159-28175A>G	ENSP00000484464.1:n.159-28175A>G
ENST00000613706.5:c.906+238A>G	ENSP00000484976.2:n.906+238A>G
ENST00000617164.5:c.1087A>G	ENSP00000480470.1:p.Asn363Asp
ENST00000619009.5:c.364+11567A>G	ENSP00000482293.1:n.364+11567A>G
ENST00000650978.1:c.986A>G
ENST00000260947.8:c.1144A>G	ENSP00000260947.4:p.Asn382Asp
ENST00000421162.1:c.215+16331A>G	ENSP00000392245.1:n.215+16331A>G
ENST00000455743.5:c.*764A>G	ENSP00000412186.1:n.*764A>G
ENST00000613192.1:c.73+28682A>G	ENSP00000483275.1:n.73+28682A>G
ENST00000613374.4:c.159-28175A>G	ENSP00000484464.1:n.159-28175A>G
ENST00000613706.4:c.215+16331A>G	ENSP00000484976.1:n.215+16331A>G
ENST00000617164.4:c.1087A>G	ENSP00000480470.1:p.Asn363Asp
ENST00000619009.4:c.364+11567A>G	ENSP00000482293.1:n.364+11567A>G
ENST00000620057.4:c.365-11418A>G	ENSP00000481988.1:n.365-11418A>G
NM_000465.3:c.1144A>G	NP_000456.2:p.Asn382Asp
NM_001282543.1:c.1087A>G	NP_001269472.1:p.Asn363Asp
NM_001282545.1:c.215+16331A>G	NP_001269474.1:n.215+16331A>G
NM_001282548.1:c.159-28175A>G	NP_001269477.1:n.159-28175A>G
NM_001282549.1:c.364+11567A>G	NP_001269478.1:n.364+11567A>G
NR_104212.1:n.1137A>G
NR_104215.1:n.1080A>G
NR_104216.1:n.507-11418A>G
XM_011511567.1:c.1090A>G	XP_011509869.1:p.Asn364Asp
XM_011511568.1:c.1144A>G	XP_011509870.1:p.Asn382Asp
XM_017004613.1:c.1243A>G	XP_016860102.1:p.Asn415Asp
XM_017004614.1:c.1243A>G	XP_016860103.1:p.Asn415Asp
XR_002959322.1:n.1334A>G
NM_000465.4:c.1144A>G MANE Select	NP_000456.2:p.Asn382Asp
NM_001282543.2:c.1087A>G	NP_001269472.1:p.Asn363Asp
NM_001282545.2:c.215+16331A>G	NP_001269474.1:n.215+16331A>G
NM_001282548.2:c.159-28175A>G	NP_001269477.1:n.159-28175A>G
NM_001282549.2:c.364+11567A>G	NP_001269478.1:n.364+11567A>G
NR_104212.2:n.1109A>G
NR_104215.2:n.1052A>G
NR_104216.2:n.479-11418A>G