Canonical Allele Identifier: CA2577234235

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2691050
• ClinVar RCV Id: RCV003493302

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728668T>C , CM000664.2:g.214728668T>C	GRCh38
NC_000002.11:g.215593392T>C , CM000664.1:g.215593392T>C	GRCh37
NC_000002.10:g.215301637T>C	NCBI36
NG_012047.2:g.86037A>G
NG_012047.3:g.86044A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*8A>G MANE Select	ENSP00000260947.4:n.*8A>G
ENST00000613374.5:c.*8A>G	ENSP00000484464.1:n.*8A>G
ENST00000613706.5:c.*8A>G	ENSP00000484976.2:n.*8A>G
ENST00000617164.5:c.*8A>G	ENSP00000480470.1:n.*8A>G
ENST00000619009.5:c.*8A>G	ENSP00000482293.1:n.*8A>G
ENST00000650978.1:c.3717A>G
ENST00000260947.8:c.*8A>G	ENSP00000260947.4:n.*8A>G
ENST00000432456.5:c.485A>G
ENST00000471590.5:n.677A>G
ENST00000613374.4:c.*8A>G	ENSP00000484464.1:n.*8A>G
ENST00000613706.4:c.*8A>G	ENSP00000484976.1:n.*8A>G
ENST00000617164.4:c.*8A>G	ENSP00000480470.1:n.*8A>G
ENST00000619009.4:c.*8A>G	ENSP00000482293.1:n.*8A>G
NM_000465.3:c.*8A>G	NP_000456.2:n.*8A>G
NM_001282543.1:c.*8A>G	NP_001269472.1:n.*8A>G
NM_001282545.1:c.*8A>G	NP_001269474.1:n.*8A>G
NM_001282548.1:c.*8A>G	NP_001269477.1:n.*8A>G
NM_001282549.1:c.*8A>G	NP_001269478.1:n.*8A>G
NR_104212.1:n.2335A>G
NR_104215.1:n.2278A>G
NR_104216.1:n.1534A>G
XM_011511567.1:c.*8A>G	XP_011509869.1:n.*8A>G
XM_017004613.1:c.*8A>G	XP_016860102.1:n.*8A>G
XR_002959322.1:n.2708A>G
NM_000465.4:c.*8A>G MANE Select	NP_000456.2:n.*8A>G
NM_001282543.2:c.*8A>G	NP_001269472.1:n.*8A>G
NM_001282545.2:c.*8A>G	NP_001269474.1:n.*8A>G
NM_001282548.2:c.*8A>G	NP_001269477.1:n.*8A>G
NM_001282549.2:c.*8A>G	NP_001269478.1:n.*8A>G
NR_104212.2:n.2307A>G
NR_104215.2:n.2250A>G
NR_104216.2:n.1506A>G