Canonical Allele Identifier: CA350450090

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593504T>G (hg19) ; chr2:g.214728780T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728780T>G , CM000664.2:g.214728780T>G	GRCh38
NC_000002.11:g.215593504T>G , CM000664.1:g.215593504T>G	GRCh37
NC_000002.10:g.215301749T>G	NCBI36
NG_012047.2:g.85925A>C
NG_012047.3:g.85932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2230A>C MANE Select	ENSP00000260947.4:p.Asn744His
ENST00000421162.2:c.877A>C	ENSP00000392245.2:p.Asn293His
ENST00000613192.2:c.*293A>C	ENSP00000483275.2:n.*293A>C
ENST00000613374.5:c.820A>C	ENSP00000484464.1:p.Asn274His
ENST00000613706.5:c.1822A>C	ENSP00000484976.2:p.Asn608His
ENST00000617164.5:c.2173A>C	ENSP00000480470.1:p.Asn725His
ENST00000619009.5:c.691A>C	ENSP00000482293.1:p.Asn231His
ENST00000650978.1:c.3605A>C
ENST00000260947.8:c.2230A>C	ENSP00000260947.4:p.Asn744His
ENST00000432456.5:c.373A>C
ENST00000455743.5:c.*1850A>C	ENSP00000412186.1:n.*1850A>C
ENST00000471590.5:n.565A>C
ENST00000613192.1:c.400A>C	ENSP00000483275.1:p.Asn134His
ENST00000613374.4:c.820A>C	ENSP00000484464.1:p.Asn274His
ENST00000613706.4:c.877A>C	ENSP00000484976.1:p.Asn293His
ENST00000617164.4:c.2173A>C	ENSP00000480470.1:p.Asn725His
ENST00000619009.4:c.691A>C	ENSP00000482293.1:p.Asn231His
ENST00000620057.4:c.*896A>C	ENSP00000481988.1:n.*896A>C
NM_000465.3:c.2230A>C	NP_000456.2:p.Asn744His
NM_001282543.1:c.2173A>C	NP_001269472.1:p.Asn725His
NM_001282545.1:c.877A>C	NP_001269474.1:p.Asn293His
NM_001282548.1:c.820A>C	NP_001269477.1:p.Asn274His
NM_001282549.1:c.691A>C	NP_001269478.1:p.Asn231His
NR_104212.1:n.2223A>C
NR_104215.1:n.2166A>C
NR_104216.1:n.1422A>C
XM_011511567.1:c.2176A>C	XP_011509869.1:p.Asn726His
XM_017004613.1:c.2329A>C	XP_016860102.1:p.Asn777His
XR_002959322.1:n.2596A>C
NM_000465.4:c.2230A>C MANE Select	NP_000456.2:p.Asn744His
NM_001282543.2:c.2173A>C	NP_001269472.1:p.Asn725His
NM_001282545.2:c.877A>C	NP_001269474.1:p.Asn293His
NM_001282548.2:c.820A>C	NP_001269477.1:p.Asn274His
NM_001282549.2:c.691A>C	NP_001269478.1:p.Asn231His
NR_104212.2:n.2195A>C
NR_104215.2:n.2138A>C
NR_104216.2:n.1394A>C