Canonical Allele Identifier: CA350455219

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1720996
• ClinVar RCV Id: RCV002300212
• MyVariant Identifiers: chr2:g.215645743T>G (hg19) ; chr2:g.214781019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781019T>G , CM000664.2:g.214781019T>G	GRCh38
NC_000002.11:g.215645743T>G , CM000664.1:g.215645743T>G	GRCh37
NC_000002.10:g.215353988T>G	NCBI36
NG_012047.2:g.33686A>C
NG_012047.3:g.33693A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.855A>C MANE Select	ENSP00000260947.4:p.Gln285His
ENST00000421162.2:c.215+16042A>C	ENSP00000392245.2:n.215+16042A>C
ENST00000613192.2:c.158+28393A>C	ENSP00000483275.2:n.158+28393A>C
ENST00000613374.5:c.158+28393A>C	ENSP00000484464.1:n.158+28393A>C
ENST00000613706.5:c.855A>C	ENSP00000484976.2:p.Gln285His
ENST00000617164.5:c.798A>C	ENSP00000480470.1:p.Gln266His
ENST00000619009.5:c.364+11278A>C	ENSP00000482293.1:n.364+11278A>C
ENST00000650978.1:c.697A>C
ENST00000260947.8:c.855A>C	ENSP00000260947.4:p.Gln285His
ENST00000421162.1:c.215+16042A>C	ENSP00000392245.1:n.215+16042A>C
ENST00000455743.5:c.*475A>C	ENSP00000412186.1:n.*475A>C
ENST00000471787.1:n.750A>C
ENST00000613192.1:c.73+28393A>C	ENSP00000483275.1:n.73+28393A>C
ENST00000613374.4:c.158+28393A>C	ENSP00000484464.1:n.158+28393A>C
ENST00000613706.4:c.215+16042A>C	ENSP00000484976.1:n.215+16042A>C
ENST00000617164.4:c.798A>C	ENSP00000480470.1:p.Gln266His
ENST00000619009.4:c.364+11278A>C	ENSP00000482293.1:n.364+11278A>C
ENST00000620057.4:c.364+11278A>C	ENSP00000481988.1:n.364+11278A>C
NM_000465.3:c.855A>C	NP_000456.2:p.Gln285His
NM_001282543.1:c.798A>C	NP_001269472.1:p.Gln266His
NM_001282545.1:c.215+16042A>C	NP_001269474.1:n.215+16042A>C
NM_001282548.1:c.158+28393A>C	NP_001269477.1:n.158+28393A>C
NM_001282549.1:c.364+11278A>C	NP_001269478.1:n.364+11278A>C
NR_104212.1:n.848A>C
NR_104215.1:n.791A>C
NR_104216.1:n.506+11278A>C
XM_011511567.1:c.801A>C	XP_011509869.1:p.Gln267His
XM_011511568.1:c.855A>C	XP_011509870.1:p.Gln285His
XM_017004613.1:c.954A>C	XP_016860102.1:p.Gln318His
XM_017004614.1:c.954A>C	XP_016860103.1:p.Gln318His
XR_002959322.1:n.1045A>C
NM_000465.4:c.855A>C MANE Select	NP_000456.2:p.Gln285His
NM_001282543.2:c.798A>C	NP_001269472.1:p.Gln266His
NM_001282545.2:c.215+16042A>C	NP_001269474.1:n.215+16042A>C
NM_001282548.2:c.158+28393A>C	NP_001269477.1:n.158+28393A>C
NM_001282549.2:c.364+11278A>C	NP_001269478.1:n.364+11278A>C
NR_104212.2:n.820A>C
NR_104215.2:n.763A>C
NR_104216.2:n.478+11278A>C