Canonical Allele Identifier: CA350452387

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609883A>C (hg19) ; chr2:g.214745159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745159A>C , CM000664.2:g.214745159A>C	GRCh38
NC_000002.11:g.215609883A>C , CM000664.1:g.215609883A>C	GRCh37
NC_000002.10:g.215318128A>C	NCBI36
NG_012047.2:g.69546T>G
NG_012047.3:g.69553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1811T>G MANE Select	ENSP00000260947.4:p.Val604Gly
ENST00000421162.2:c.458T>G	ENSP00000392245.2:p.Val153Gly
ENST00000613192.2:c.159-14651T>G	ENSP00000483275.2:n.159-14651T>G
ENST00000613374.5:c.401T>G	ENSP00000484464.1:p.Val134Gly
ENST00000613706.5:c.1403T>G	ENSP00000484976.2:p.Val468Gly
ENST00000617164.5:c.1754T>G	ENSP00000480470.1:p.Val585Gly
ENST00000619009.5:c.365-14651T>G	ENSP00000482293.1:n.365-14651T>G
ENST00000650978.1:c.3186T>G
ENST00000260947.8:c.1811T>G	ENSP00000260947.4:p.Val604Gly
ENST00000421162.1:c.458T>G	ENSP00000392245.1:p.Val153Gly
ENST00000455743.5:c.*1431T>G	ENSP00000412186.1:n.*1431T>G
ENST00000613192.1:c.74-14651T>G	ENSP00000483275.1:n.74-14651T>G
ENST00000613374.4:c.401T>G	ENSP00000484464.1:p.Val134Gly
ENST00000613706.4:c.458T>G	ENSP00000484976.1:p.Val153Gly
ENST00000617164.4:c.1754T>G	ENSP00000480470.1:p.Val585Gly
ENST00000619009.4:c.365-14651T>G	ENSP00000482293.1:n.365-14651T>G
ENST00000620057.4:c.*477T>G	ENSP00000481988.1:n.*477T>G
NM_000465.3:c.1811T>G	NP_000456.2:p.Val604Gly
NM_001282543.1:c.1754T>G	NP_001269472.1:p.Val585Gly
NM_001282545.1:c.458T>G	NP_001269474.1:p.Val153Gly
NM_001282548.1:c.401T>G	NP_001269477.1:p.Val134Gly
NM_001282549.1:c.365-14651T>G	NP_001269478.1:n.365-14651T>G
NR_104212.1:n.1804T>G
NR_104215.1:n.1747T>G
NR_104216.1:n.1003T>G
XM_011511567.1:c.1757T>G	XP_011509869.1:p.Val586Gly
XM_011511568.1:c.1811T>G	XP_011509870.1:p.Val604Gly
XM_017004613.1:c.1910T>G	XP_016860102.1:p.Val637Gly
XM_017004614.1:c.1910T>G	XP_016860103.1:p.Val637Gly
XR_002959322.1:n.2001T>G
NM_000465.4:c.1811T>G MANE Select	NP_000456.2:p.Val604Gly
NM_001282543.2:c.1754T>G	NP_001269472.1:p.Val585Gly
NM_001282545.2:c.458T>G	NP_001269474.1:p.Val153Gly
NM_001282548.2:c.401T>G	NP_001269477.1:p.Val134Gly
NM_001282549.2:c.365-14651T>G	NP_001269478.1:n.365-14651T>G
NR_104212.2:n.1776T>G
NR_104215.2:n.1719T>G
NR_104216.2:n.975T>G