Canonical Allele Identifier: CA350454186

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645555A>C (hg19) ; chr2:g.214780831A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780831A>C , CM000664.2:g.214780831A>C	GRCh38
NC_000002.11:g.215645555A>C , CM000664.1:g.215645555A>C	GRCh37
NC_000002.10:g.215353800A>C	NCBI36
NG_012047.2:g.33874T>G
NG_012047.3:g.33881T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1043T>G MANE Select	ENSP00000260947.4:p.Val348Gly
ENST00000421162.2:c.215+16230T>G	ENSP00000392245.2:n.215+16230T>G
ENST00000613192.2:c.158+28581T>G	ENSP00000483275.2:n.158+28581T>G
ENST00000613374.5:c.159-28276T>G	ENSP00000484464.1:n.159-28276T>G
ENST00000613706.5:c.906+137T>G	ENSP00000484976.2:n.906+137T>G
ENST00000617164.5:c.986T>G	ENSP00000480470.1:p.Val329Gly
ENST00000619009.5:c.364+11466T>G	ENSP00000482293.1:n.364+11466T>G
ENST00000650978.1:c.885T>G
ENST00000260947.8:c.1043T>G	ENSP00000260947.4:p.Val348Gly
ENST00000421162.1:c.215+16230T>G	ENSP00000392245.1:n.215+16230T>G
ENST00000455743.5:c.*663T>G	ENSP00000412186.1:n.*663T>G
ENST00000613192.1:c.73+28581T>G	ENSP00000483275.1:n.73+28581T>G
ENST00000613374.4:c.159-28276T>G	ENSP00000484464.1:n.159-28276T>G
ENST00000613706.4:c.215+16230T>G	ENSP00000484976.1:n.215+16230T>G
ENST00000617164.4:c.986T>G	ENSP00000480470.1:p.Val329Gly
ENST00000619009.4:c.364+11466T>G	ENSP00000482293.1:n.364+11466T>G
ENST00000620057.4:c.364+11466T>G	ENSP00000481988.1:n.364+11466T>G
NM_000465.3:c.1043T>G	NP_000456.2:p.Val348Gly
NM_001282543.1:c.986T>G	NP_001269472.1:p.Val329Gly
NM_001282545.1:c.215+16230T>G	NP_001269474.1:n.215+16230T>G
NM_001282548.1:c.159-28276T>G	NP_001269477.1:n.159-28276T>G
NM_001282549.1:c.364+11466T>G	NP_001269478.1:n.364+11466T>G
NR_104212.1:n.1036T>G
NR_104215.1:n.979T>G
NR_104216.1:n.506+11466T>G
XM_011511567.1:c.989T>G	XP_011509869.1:p.Val330Gly
XM_011511568.1:c.1043T>G	XP_011509870.1:p.Val348Gly
XM_017004613.1:c.1142T>G	XP_016860102.1:p.Val381Gly
XM_017004614.1:c.1142T>G	XP_016860103.1:p.Val381Gly
XR_002959322.1:n.1233T>G
NM_000465.4:c.1043T>G MANE Select	NP_000456.2:p.Val348Gly
NM_001282543.2:c.986T>G	NP_001269472.1:p.Val329Gly
NM_001282545.2:c.215+16230T>G	NP_001269474.1:n.215+16230T>G
NM_001282548.2:c.159-28276T>G	NP_001269477.1:n.159-28276T>G
NM_001282549.2:c.364+11466T>G	NP_001269478.1:n.364+11466T>G
NR_104212.2:n.1008T>G
NR_104215.2:n.951T>G
NR_104216.2:n.478+11466T>G