Canonical Allele Identifier: CA350458248

Gene: BARD1

Linked Data

• gnomAD v4: 2-214781491-G-C
• MyVariant Identifiers: chr2:g.215646215G>C (hg19) ; chr2:g.214781491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781491G>C , CM000664.2:g.214781491G>C	GRCh38
NC_000002.11:g.215646215G>C , CM000664.1:g.215646215G>C	GRCh37
NC_000002.10:g.215354460G>C	NCBI36
NG_012047.2:g.33214C>G
NG_012047.3:g.33221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.383C>G MANE Select	ENSP00000260947.4:p.Pro128Arg
ENST00000421162.2:c.215+15570C>G	ENSP00000392245.2:n.215+15570C>G
ENST00000613192.2:c.158+27921C>G	ENSP00000483275.2:n.158+27921C>G
ENST00000613374.5:c.158+27921C>G	ENSP00000484464.1:n.158+27921C>G
ENST00000613706.5:c.383C>G	ENSP00000484976.2:p.Pro128Arg
ENST00000617164.5:c.326C>G	ENSP00000480470.1:p.Pro109Arg
ENST00000619009.5:c.364+10806C>G	ENSP00000482293.1:n.364+10806C>G
ENST00000650978.1:c.225C>G
ENST00000260947.8:c.383C>G	ENSP00000260947.4:p.Pro128Arg
ENST00000421162.1:c.215+15570C>G	ENSP00000392245.1:n.215+15570C>G
ENST00000455743.5:c.*3C>G	ENSP00000412186.1:n.*3C>G
ENST00000471787.1:n.278C>G
ENST00000613192.1:c.73+27921C>G	ENSP00000483275.1:n.73+27921C>G
ENST00000613374.4:c.158+27921C>G	ENSP00000484464.1:n.158+27921C>G
ENST00000613706.4:c.215+15570C>G	ENSP00000484976.1:n.215+15570C>G
ENST00000617164.4:c.326C>G	ENSP00000480470.1:p.Pro109Arg
ENST00000619009.4:c.364+10806C>G	ENSP00000482293.1:n.364+10806C>G
ENST00000620057.4:c.364+10806C>G	ENSP00000481988.1:n.364+10806C>G
NM_000465.3:c.383C>G	NP_000456.2:p.Pro128Arg
NM_001282543.1:c.326C>G	NP_001269472.1:p.Pro109Arg
NM_001282545.1:c.215+15570C>G	NP_001269474.1:n.215+15570C>G
NM_001282548.1:c.158+27921C>G	NP_001269477.1:n.158+27921C>G
NM_001282549.1:c.364+10806C>G	NP_001269478.1:n.364+10806C>G
NR_104212.1:n.376C>G
NR_104215.1:n.319C>G
NR_104216.1:n.506+10806C>G
XM_011511567.1:c.329C>G	XP_011509869.1:p.Pro110Arg
XM_011511568.1:c.383C>G	XP_011509870.1:p.Pro128Arg
XM_017004613.1:c.482C>G	XP_016860102.1:p.Pro161Arg
XM_017004614.1:c.482C>G	XP_016860103.1:p.Pro161Arg
XR_002959322.1:n.573C>G
NM_000465.4:c.383C>G MANE Select	NP_000456.2:p.Pro128Arg
NM_001282543.2:c.326C>G	NP_001269472.1:p.Pro109Arg
NM_001282545.2:c.215+15570C>G	NP_001269474.1:n.215+15570C>G
NM_001282548.2:c.158+27921C>G	NP_001269477.1:n.158+27921C>G
NM_001282549.2:c.364+10806C>G	NP_001269478.1:n.364+10806C>G
NR_104212.2:n.348C>G
NR_104215.2:n.291C>G
NR_104216.2:n.478+10806C>G