Canonical Allele Identifier: CA350452332

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1017608
• ClinVar RCV Id: RCV001316782
• dbSNP Id: rs1693042837
• MyVariant Identifiers: chr2:g.215609874A>T (hg19) ; chr2:g.214745150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745150A>T , CM000664.2:g.214745150A>T	GRCh38
NC_000002.11:g.215609874A>T , CM000664.1:g.215609874A>T	GRCh37
NC_000002.10:g.215318119A>T	NCBI36
NG_012047.2:g.69555T>A
NG_012047.3:g.69562T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1820T>A MANE Select	ENSP00000260947.4:p.Val607Asp
ENST00000421162.2:c.467T>A	ENSP00000392245.2:p.Val156Asp
ENST00000613192.2:c.159-14642T>A	ENSP00000483275.2:n.159-14642T>A
ENST00000613374.5:c.410T>A	ENSP00000484464.1:p.Val137Asp
ENST00000613706.5:c.1412T>A	ENSP00000484976.2:p.Val471Asp
ENST00000617164.5:c.1763T>A	ENSP00000480470.1:p.Val588Asp
ENST00000619009.5:c.365-14642T>A	ENSP00000482293.1:n.365-14642T>A
ENST00000650978.1:c.3195T>A
ENST00000260947.8:c.1820T>A	ENSP00000260947.4:p.Val607Asp
ENST00000421162.1:c.467T>A	ENSP00000392245.1:p.Val156Asp
ENST00000455743.5:c.*1440T>A	ENSP00000412186.1:n.*1440T>A
ENST00000613192.1:c.74-14642T>A	ENSP00000483275.1:n.74-14642T>A
ENST00000613374.4:c.410T>A	ENSP00000484464.1:p.Val137Asp
ENST00000613706.4:c.467T>A	ENSP00000484976.1:p.Val156Asp
ENST00000617164.4:c.1763T>A	ENSP00000480470.1:p.Val588Asp
ENST00000619009.4:c.365-14642T>A	ENSP00000482293.1:n.365-14642T>A
ENST00000620057.4:c.*486T>A	ENSP00000481988.1:n.*486T>A
NM_000465.3:c.1820T>A	NP_000456.2:p.Val607Asp
NM_001282543.1:c.1763T>A	NP_001269472.1:p.Val588Asp
NM_001282545.1:c.467T>A	NP_001269474.1:p.Val156Asp
NM_001282548.1:c.410T>A	NP_001269477.1:p.Val137Asp
NM_001282549.1:c.365-14642T>A	NP_001269478.1:n.365-14642T>A
NR_104212.1:n.1813T>A
NR_104215.1:n.1756T>A
NR_104216.1:n.1012T>A
XM_011511567.1:c.1766T>A	XP_011509869.1:p.Val589Asp
XM_011511568.1:c.1820T>A	XP_011509870.1:p.Val607Asp
XM_017004613.1:c.1919T>A	XP_016860102.1:p.Val640Asp
XM_017004614.1:c.1919T>A	XP_016860103.1:p.Val640Asp
XR_002959322.1:n.2010T>A
NM_000465.4:c.1820T>A MANE Select	NP_000456.2:p.Val607Asp
NM_001282543.2:c.1763T>A	NP_001269472.1:p.Val588Asp
NM_001282545.2:c.467T>A	NP_001269474.1:p.Val156Asp
NM_001282548.2:c.410T>A	NP_001269477.1:p.Val137Asp
NM_001282549.2:c.365-14642T>A	NP_001269478.1:n.365-14642T>A
NR_104212.2:n.1785T>A
NR_104215.2:n.1728T>A
NR_104216.2:n.984T>A