Canonical Allele Identifier: CA431390568

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1549403
• ClinVar RCV Id: RCV002189389 ; RCV003161373
• dbSNP Id: rs1060501277
• gnomAD v4: 2-214780824-T-C
• MyVariant Identifiers: chr2:g.215645548T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780824T>C , CM000664.2:g.214780824T>C	GRCh38
NC_000002.11:g.215645548T>C , CM000664.1:g.215645548T>C	GRCh37
NC_000002.10:g.215353793T>C	NCBI36
NG_012047.2:g.33881A>G
NG_012047.3:g.33888A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1050A>G MANE Select	ENSP00000260947.4:p.Gln350=
ENST00000421162.2:c.215+16237A>G	ENSP00000392245.2:n.215+16237A>G
ENST00000613192.2:c.158+28588A>G	ENSP00000483275.2:n.158+28588A>G
ENST00000613374.5:c.159-28269A>G	ENSP00000484464.1:n.159-28269A>G
ENST00000613706.5:c.906+144A>G	ENSP00000484976.2:n.906+144A>G
ENST00000617164.5:c.993A>G	ENSP00000480470.1:p.Gln331=
ENST00000619009.5:c.364+11473A>G	ENSP00000482293.1:n.364+11473A>G
ENST00000650978.1:c.892A>G
ENST00000260947.8:c.1050A>G	ENSP00000260947.4:p.Gln350=
ENST00000421162.1:c.215+16237A>G	ENSP00000392245.1:n.215+16237A>G
ENST00000455743.5:c.*670A>G	ENSP00000412186.1:n.*670A>G
ENST00000613192.1:c.73+28588A>G	ENSP00000483275.1:n.73+28588A>G
ENST00000613374.4:c.159-28269A>G	ENSP00000484464.1:n.159-28269A>G
ENST00000613706.4:c.215+16237A>G	ENSP00000484976.1:n.215+16237A>G
ENST00000617164.4:c.993A>G	ENSP00000480470.1:p.Gln331=
ENST00000619009.4:c.364+11473A>G	ENSP00000482293.1:n.364+11473A>G
ENST00000620057.4:c.364+11473A>G	ENSP00000481988.1:n.364+11473A>G
NM_000465.3:c.1050A>G	NP_000456.2:p.Gln350=
NM_001282543.1:c.993A>G	NP_001269472.1:p.Gln331=
NM_001282545.1:c.215+16237A>G	NP_001269474.1:n.215+16237A>G
NM_001282548.1:c.159-28269A>G	NP_001269477.1:n.159-28269A>G
NM_001282549.1:c.364+11473A>G	NP_001269478.1:n.364+11473A>G
NR_104212.1:n.1043A>G
NR_104215.1:n.986A>G
NR_104216.1:n.506+11473A>G
XM_011511567.1:c.996A>G	XP_011509869.1:p.Gln332=
XM_011511568.1:c.1050A>G	XP_011509870.1:p.Gln350=
XM_017004613.1:c.1149A>G	XP_016860102.1:p.Gln383=
XM_017004614.1:c.1149A>G	XP_016860103.1:p.Gln383=
XR_002959322.1:n.1240A>G
NM_000465.4:c.1050A>G MANE Select	NP_000456.2:p.Gln350=
NM_001282543.2:c.993A>G	NP_001269472.1:p.Gln331=
NM_001282545.2:c.215+16237A>G	NP_001269474.1:n.215+16237A>G
NM_001282548.2:c.159-28269A>G	NP_001269477.1:n.159-28269A>G
NM_001282549.2:c.364+11473A>G	NP_001269478.1:n.364+11473A>G
NR_104212.2:n.1015A>G
NR_104215.2:n.958A>G
NR_104216.2:n.478+11473A>G