Canonical Allele Identifier: CA2577234218

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728595-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728595T>C , CM000664.2:g.214728595T>C	GRCh38
NC_000002.11:g.215593319T>C , CM000664.1:g.215593319T>C	GRCh37
NC_000002.10:g.215301564T>C	NCBI36
NG_012047.2:g.86110A>G
NG_012047.3:g.86117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*81A>G MANE Select	ENSP00000260947.4:n.*81A>G
ENST00000613374.5:c.*81A>G	ENSP00000484464.1:n.*81A>G
ENST00000613706.5:c.*81A>G	ENSP00000484976.2:n.*81A>G
ENST00000617164.5:c.*81A>G	ENSP00000480470.1:n.*81A>G
ENST00000619009.5:c.*81A>G	ENSP00000482293.1:n.*81A>G
ENST00000650978.1:c.3790A>G
ENST00000260947.8:c.*81A>G	ENSP00000260947.4:n.*81A>G
ENST00000432456.5:c.558A>G
ENST00000471590.5:n.750A>G
ENST00000613374.4:c.*81A>G	ENSP00000484464.1:n.*81A>G
ENST00000613706.4:c.*81A>G	ENSP00000484976.1:n.*81A>G
ENST00000617164.4:c.*81A>G	ENSP00000480470.1:n.*81A>G
ENST00000619009.4:c.*81A>G	ENSP00000482293.1:n.*81A>G
NM_000465.3:c.*81A>G	NP_000456.2:n.*81A>G
NM_001282543.1:c.*81A>G	NP_001269472.1:n.*81A>G
NM_001282545.1:c.*81A>G	NP_001269474.1:n.*81A>G
NM_001282548.1:c.*81A>G	NP_001269477.1:n.*81A>G
NM_001282549.1:c.*81A>G	NP_001269478.1:n.*81A>G
NR_104212.1:n.2408A>G
NR_104215.1:n.2351A>G
NR_104216.1:n.1607A>G
XM_011511567.1:c.*81A>G	XP_011509869.1:n.*81A>G
XM_017004613.1:c.*81A>G	XP_016860102.1:n.*81A>G
XR_002959322.1:n.2781A>G
NM_000465.4:c.*81A>G MANE Select	NP_000456.2:n.*81A>G
NM_001282543.2:c.*81A>G	NP_001269472.1:n.*81A>G
NM_001282545.2:c.*81A>G	NP_001269474.1:n.*81A>G
NM_001282548.2:c.*81A>G	NP_001269477.1:n.*81A>G
NM_001282549.2:c.*81A>G	NP_001269478.1:n.*81A>G
NR_104212.2:n.2380A>G
NR_104215.2:n.2323A>G
NR_104216.2:n.1579A>G