Canonical Allele Identifier: CA431392013

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1762893
• ClinVar RCV Id: RCV002430404 ; RCV003607490
• MyVariant Identifiers: chr2:g.215645767T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781043T>C , CM000664.2:g.214781043T>C	GRCh38
NC_000002.11:g.215645767T>C , CM000664.1:g.215645767T>C	GRCh37
NC_000002.10:g.215354012T>C	NCBI36
NG_012047.2:g.33662A>G
NG_012047.3:g.33669A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.831A>G MANE Select	ENSP00000260947.4:p.Glu277=
ENST00000421162.2:c.215+16018A>G	ENSP00000392245.2:n.215+16018A>G
ENST00000613192.2:c.158+28369A>G	ENSP00000483275.2:n.158+28369A>G
ENST00000613374.5:c.158+28369A>G	ENSP00000484464.1:n.158+28369A>G
ENST00000613706.5:c.831A>G	ENSP00000484976.2:p.Glu277=
ENST00000617164.5:c.774A>G	ENSP00000480470.1:p.Glu258=
ENST00000619009.5:c.364+11254A>G	ENSP00000482293.1:n.364+11254A>G
ENST00000650978.1:c.673A>G
ENST00000260947.8:c.831A>G	ENSP00000260947.4:p.Glu277=
ENST00000421162.1:c.215+16018A>G	ENSP00000392245.1:n.215+16018A>G
ENST00000455743.5:c.*451A>G	ENSP00000412186.1:n.*451A>G
ENST00000471787.1:n.726A>G
ENST00000613192.1:c.73+28369A>G	ENSP00000483275.1:n.73+28369A>G
ENST00000613374.4:c.158+28369A>G	ENSP00000484464.1:n.158+28369A>G
ENST00000613706.4:c.215+16018A>G	ENSP00000484976.1:n.215+16018A>G
ENST00000617164.4:c.774A>G	ENSP00000480470.1:p.Glu258=
ENST00000619009.4:c.364+11254A>G	ENSP00000482293.1:n.364+11254A>G
ENST00000620057.4:c.364+11254A>G	ENSP00000481988.1:n.364+11254A>G
NM_000465.3:c.831A>G	NP_000456.2:p.Glu277=
NM_001282543.1:c.774A>G	NP_001269472.1:p.Glu258=
NM_001282545.1:c.215+16018A>G	NP_001269474.1:n.215+16018A>G
NM_001282548.1:c.158+28369A>G	NP_001269477.1:n.158+28369A>G
NM_001282549.1:c.364+11254A>G	NP_001269478.1:n.364+11254A>G
NR_104212.1:n.824A>G
NR_104215.1:n.767A>G
NR_104216.1:n.506+11254A>G
XM_011511567.1:c.777A>G	XP_011509869.1:p.Glu259=
XM_011511568.1:c.831A>G	XP_011509870.1:p.Glu277=
XM_017004613.1:c.930A>G	XP_016860102.1:p.Glu310=
XM_017004614.1:c.930A>G	XP_016860103.1:p.Glu310=
XR_002959322.1:n.1021A>G
NM_000465.4:c.831A>G MANE Select	NP_000456.2:p.Glu277=
NM_001282543.2:c.774A>G	NP_001269472.1:p.Glu258=
NM_001282545.2:c.215+16018A>G	NP_001269474.1:n.215+16018A>G
NM_001282548.2:c.158+28369A>G	NP_001269477.1:n.158+28369A>G
NM_001282549.2:c.364+11254A>G	NP_001269478.1:n.364+11254A>G
NR_104212.2:n.796A>G
NR_104215.2:n.739A>G
NR_104216.2:n.478+11254A>G