Canonical Allele Identifier: CA350457469

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2902604
• ClinVar RCV Id: RCV003607024
• dbSNP Id: rs2106111979
• MyVariant Identifiers: chr2:g.215646075C>T (hg19) ; chr2:g.214781351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781351C>T , CM000664.2:g.214781351C>T	GRCh38
NC_000002.11:g.215646075C>T , CM000664.1:g.215646075C>T	GRCh37
NC_000002.10:g.215354320C>T	NCBI36
NG_012047.2:g.33354G>A
NG_012047.3:g.33361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.523G>A MANE Select	ENSP00000260947.4:p.Ala175Thr
ENST00000421162.2:c.215+15710G>A	ENSP00000392245.2:n.215+15710G>A
ENST00000613192.2:c.158+28061G>A	ENSP00000483275.2:n.158+28061G>A
ENST00000613374.5:c.158+28061G>A	ENSP00000484464.1:n.158+28061G>A
ENST00000613706.5:c.523G>A	ENSP00000484976.2:p.Ala175Thr
ENST00000617164.5:c.466G>A	ENSP00000480470.1:p.Ala156Thr
ENST00000619009.5:c.364+10946G>A	ENSP00000482293.1:n.364+10946G>A
ENST00000650978.1:c.365G>A
ENST00000260947.8:c.523G>A	ENSP00000260947.4:p.Ala175Thr
ENST00000421162.1:c.215+15710G>A	ENSP00000392245.1:n.215+15710G>A
ENST00000455743.5:c.*143G>A	ENSP00000412186.1:n.*143G>A
ENST00000471787.1:n.418G>A
ENST00000613192.1:c.73+28061G>A	ENSP00000483275.1:n.73+28061G>A
ENST00000613374.4:c.158+28061G>A	ENSP00000484464.1:n.158+28061G>A
ENST00000613706.4:c.215+15710G>A	ENSP00000484976.1:n.215+15710G>A
ENST00000617164.4:c.466G>A	ENSP00000480470.1:p.Ala156Thr
ENST00000619009.4:c.364+10946G>A	ENSP00000482293.1:n.364+10946G>A
ENST00000620057.4:c.364+10946G>A	ENSP00000481988.1:n.364+10946G>A
NM_000465.3:c.523G>A	NP_000456.2:p.Ala175Thr
NM_001282543.1:c.466G>A	NP_001269472.1:p.Ala156Thr
NM_001282545.1:c.215+15710G>A	NP_001269474.1:n.215+15710G>A
NM_001282548.1:c.158+28061G>A	NP_001269477.1:n.158+28061G>A
NM_001282549.1:c.364+10946G>A	NP_001269478.1:n.364+10946G>A
NR_104212.1:n.516G>A
NR_104215.1:n.459G>A
NR_104216.1:n.506+10946G>A
XM_011511567.1:c.469G>A	XP_011509869.1:p.Ala157Thr
XM_011511568.1:c.523G>A	XP_011509870.1:p.Ala175Thr
XM_017004613.1:c.622G>A	XP_016860102.1:p.Ala208Thr
XM_017004614.1:c.622G>A	XP_016860103.1:p.Ala208Thr
XR_002959322.1:n.713G>A
NM_000465.4:c.523G>A MANE Select	NP_000456.2:p.Ala175Thr
NM_001282543.2:c.466G>A	NP_001269472.1:p.Ala156Thr
NM_001282545.2:c.215+15710G>A	NP_001269474.1:n.215+15710G>A
NM_001282548.2:c.158+28061G>A	NP_001269477.1:n.158+28061G>A
NM_001282549.2:c.364+10946G>A	NP_001269478.1:n.364+10946G>A
NR_104212.2:n.488G>A
NR_104215.2:n.431G>A
NR_104216.2:n.478+10946G>A