Canonical Allele Identifier: CA350449945

Gene: BARD1

Linked Data

• ClinVar Variation Id: 652706
• ClinVar RCV Id: RCV000808316
• dbSNP Id: rs1574701935
• MyVariant Identifiers: chr2:g.215593461G>T (hg19) ; chr2:g.214728737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728737G>T , CM000664.2:g.214728737G>T	GRCh38
NC_000002.11:g.215593461G>T , CM000664.1:g.215593461G>T	GRCh37
NC_000002.10:g.215301706G>T	NCBI36
NG_012047.2:g.85968C>A
NG_012047.3:g.85975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2273C>A MANE Select	ENSP00000260947.4:p.Ala758Asp
ENST00000421162.2:c.920C>A	ENSP00000392245.2:p.Ala307Asp
ENST00000613192.2:c.*336C>A	ENSP00000483275.2:n.*336C>A
ENST00000613374.5:c.863C>A	ENSP00000484464.1:p.Ala288Asp
ENST00000613706.5:c.1865C>A	ENSP00000484976.2:p.Ala622Asp
ENST00000617164.5:c.2216C>A	ENSP00000480470.1:p.Ala739Asp
ENST00000619009.5:c.734C>A	ENSP00000482293.1:p.Ala245Asp
ENST00000650978.1:c.3648C>A
ENST00000260947.8:c.2273C>A	ENSP00000260947.4:p.Ala758Asp
ENST00000432456.5:c.416C>A
ENST00000455743.5:c.*1893C>A	ENSP00000412186.1:n.*1893C>A
ENST00000471590.5:n.608C>A
ENST00000613192.1:c.443C>A	ENSP00000483275.1:p.Ala148Asp
ENST00000613374.4:c.863C>A	ENSP00000484464.1:p.Ala288Asp
ENST00000613706.4:c.920C>A	ENSP00000484976.1:p.Ala307Asp
ENST00000617164.4:c.2216C>A	ENSP00000480470.1:p.Ala739Asp
ENST00000619009.4:c.734C>A	ENSP00000482293.1:p.Ala245Asp
ENST00000620057.4:c.*939C>A	ENSP00000481988.1:n.*939C>A
NM_000465.3:c.2273C>A	NP_000456.2:p.Ala758Asp
NM_001282543.1:c.2216C>A	NP_001269472.1:p.Ala739Asp
NM_001282545.1:c.920C>A	NP_001269474.1:p.Ala307Asp
NM_001282548.1:c.863C>A	NP_001269477.1:p.Ala288Asp
NM_001282549.1:c.734C>A	NP_001269478.1:p.Ala245Asp
NR_104212.1:n.2266C>A
NR_104215.1:n.2209C>A
NR_104216.1:n.1465C>A
XM_011511567.1:c.2219C>A	XP_011509869.1:p.Ala740Asp
XM_017004613.1:c.2372C>A	XP_016860102.1:p.Ala791Asp
XR_002959322.1:n.2639C>A
NM_000465.4:c.2273C>A MANE Select	NP_000456.2:p.Ala758Asp
NM_001282543.2:c.2216C>A	NP_001269472.1:p.Ala739Asp
NM_001282545.2:c.920C>A	NP_001269474.1:p.Ala307Asp
NM_001282548.2:c.863C>A	NP_001269477.1:p.Ala288Asp
NM_001282549.2:c.734C>A	NP_001269478.1:p.Ala245Asp
NR_104212.2:n.2238C>A
NR_104215.2:n.2181C>A
NR_104216.2:n.1437C>A