Canonical Allele Identifier: CA350449626

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2893954
• ClinVar RCV Id: RCV003608592
• dbSNP Id: rs1692188685
• gnomAD v4: 2-214728680-C-T
• MyVariant Identifiers: chr2:g.215593404C>T (hg19) ; chr2:g.214728680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728680C>T , CM000664.2:g.214728680C>T	GRCh38
NC_000002.11:g.215593404C>T , CM000664.1:g.215593404C>T	GRCh37
NC_000002.10:g.215301649C>T	NCBI36
NG_012047.2:g.86025G>A
NG_012047.3:g.86032G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2330G>A MANE Select	ENSP00000260947.4:p.Ser777Asn
ENST00000421162.2:c.977G>A	ENSP00000392245.2:p.Ser326Asn
ENST00000613192.2:c.*393G>A	ENSP00000483275.2:n.*393G>A
ENST00000613374.5:c.920G>A	ENSP00000484464.1:p.Ser307Asn
ENST00000613706.5:c.1922G>A	ENSP00000484976.2:p.Ser641Asn
ENST00000617164.5:c.2273G>A	ENSP00000480470.1:p.Ser758Asn
ENST00000619009.5:c.791G>A	ENSP00000482293.1:p.Ser264Asn
ENST00000650978.1:c.3705G>A
ENST00000260947.8:c.2330G>A	ENSP00000260947.4:p.Ser777Asn
ENST00000432456.5:c.473G>A
ENST00000471590.5:n.665G>A
ENST00000613192.1:c.500G>A	ENSP00000483275.1:p.Ser167Asn
ENST00000613374.4:c.920G>A	ENSP00000484464.1:p.Ser307Asn
ENST00000613706.4:c.977G>A	ENSP00000484976.1:p.Ser326Asn
ENST00000617164.4:c.2273G>A	ENSP00000480470.1:p.Ser758Asn
ENST00000619009.4:c.791G>A	ENSP00000482293.1:p.Ser264Asn
ENST00000620057.4:c.*996G>A	ENSP00000481988.1:n.*996G>A
NM_000465.3:c.2330G>A	NP_000456.2:p.Ser777Asn
NM_001282543.1:c.2273G>A	NP_001269472.1:p.Ser758Asn
NM_001282545.1:c.977G>A	NP_001269474.1:p.Ser326Asn
NM_001282548.1:c.920G>A	NP_001269477.1:p.Ser307Asn
NM_001282549.1:c.791G>A	NP_001269478.1:p.Ser264Asn
NR_104212.1:n.2323G>A
NR_104215.1:n.2266G>A
NR_104216.1:n.1522G>A
XM_011511567.1:c.2276G>A	XP_011509869.1:p.Ser759Asn
XM_017004613.1:c.2429G>A	XP_016860102.1:p.Ser810Asn
XR_002959322.1:n.2696G>A
NM_000465.4:c.2330G>A MANE Select	NP_000456.2:p.Ser777Asn
NM_001282543.2:c.2273G>A	NP_001269472.1:p.Ser758Asn
NM_001282545.2:c.977G>A	NP_001269474.1:p.Ser326Asn
NM_001282548.2:c.920G>A	NP_001269477.1:p.Ser307Asn
NM_001282549.2:c.791G>A	NP_001269478.1:p.Ser264Asn
NR_104212.2:n.2295G>A
NR_104215.2:n.2238G>A
NR_104216.2:n.1494G>A