Canonical Allele Identifier: CA350455412

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645769C>G (hg19) ; chr2:g.214781045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781045C>G , CM000664.2:g.214781045C>G	GRCh38
NC_000002.11:g.215645769C>G , CM000664.1:g.215645769C>G	GRCh37
NC_000002.10:g.215354014C>G	NCBI36
NG_012047.2:g.33660G>C
NG_012047.3:g.33667G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.829G>C MANE Select	ENSP00000260947.4:p.Glu277Gln
ENST00000421162.2:c.215+16016G>C	ENSP00000392245.2:n.215+16016G>C
ENST00000613192.2:c.158+28367G>C	ENSP00000483275.2:n.158+28367G>C
ENST00000613374.5:c.158+28367G>C	ENSP00000484464.1:n.158+28367G>C
ENST00000613706.5:c.829G>C	ENSP00000484976.2:p.Glu277Gln
ENST00000617164.5:c.772G>C	ENSP00000480470.1:p.Glu258Gln
ENST00000619009.5:c.364+11252G>C	ENSP00000482293.1:n.364+11252G>C
ENST00000650978.1:c.671G>C
ENST00000260947.8:c.829G>C	ENSP00000260947.4:p.Glu277Gln
ENST00000421162.1:c.215+16016G>C	ENSP00000392245.1:n.215+16016G>C
ENST00000455743.5:c.*449G>C	ENSP00000412186.1:n.*449G>C
ENST00000471787.1:n.724G>C
ENST00000613192.1:c.73+28367G>C	ENSP00000483275.1:n.73+28367G>C
ENST00000613374.4:c.158+28367G>C	ENSP00000484464.1:n.158+28367G>C
ENST00000613706.4:c.215+16016G>C	ENSP00000484976.1:n.215+16016G>C
ENST00000617164.4:c.772G>C	ENSP00000480470.1:p.Glu258Gln
ENST00000619009.4:c.364+11252G>C	ENSP00000482293.1:n.364+11252G>C
ENST00000620057.4:c.364+11252G>C	ENSP00000481988.1:n.364+11252G>C
NM_000465.3:c.829G>C	NP_000456.2:p.Glu277Gln
NM_001282543.1:c.772G>C	NP_001269472.1:p.Glu258Gln
NM_001282545.1:c.215+16016G>C	NP_001269474.1:n.215+16016G>C
NM_001282548.1:c.158+28367G>C	NP_001269477.1:n.158+28367G>C
NM_001282549.1:c.364+11252G>C	NP_001269478.1:n.364+11252G>C
NR_104212.1:n.822G>C
NR_104215.1:n.765G>C
NR_104216.1:n.506+11252G>C
XM_011511567.1:c.775G>C	XP_011509869.1:p.Glu259Gln
XM_011511568.1:c.829G>C	XP_011509870.1:p.Glu277Gln
XM_017004613.1:c.928G>C	XP_016860102.1:p.Glu310Gln
XM_017004614.1:c.928G>C	XP_016860103.1:p.Glu310Gln
XR_002959322.1:n.1019G>C
NM_000465.4:c.829G>C MANE Select	NP_000456.2:p.Glu277Gln
NM_001282543.2:c.772G>C	NP_001269472.1:p.Glu258Gln
NM_001282545.2:c.215+16016G>C	NP_001269474.1:n.215+16016G>C
NM_001282548.2:c.158+28367G>C	NP_001269477.1:n.158+28367G>C
NM_001282549.2:c.364+11252G>C	NP_001269478.1:n.364+11252G>C
NR_104212.2:n.794G>C
NR_104215.2:n.737G>C
NR_104216.2:n.478+11252G>C