Canonical Allele Identifier: CA350454712

Gene: BARD1

Linked Data

• dbSNP Id: rs2106109536
• MyVariant Identifiers: chr2:g.215645639C>G (hg19) ; chr2:g.214780915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780915C>G , CM000664.2:g.214780915C>G	GRCh38
NC_000002.11:g.215645639C>G , CM000664.1:g.215645639C>G	GRCh37
NC_000002.10:g.215353884C>G	NCBI36
NG_012047.2:g.33790G>C
NG_012047.3:g.33797G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.959G>C MANE Select	ENSP00000260947.4:p.Gly320Ala
ENST00000421162.2:c.215+16146G>C	ENSP00000392245.2:n.215+16146G>C
ENST00000613192.2:c.158+28497G>C	ENSP00000483275.2:n.158+28497G>C
ENST00000613374.5:c.159-28360G>C	ENSP00000484464.1:n.159-28360G>C
ENST00000613706.5:c.906+53G>C	ENSP00000484976.2:n.906+53G>C
ENST00000617164.5:c.902G>C	ENSP00000480470.1:p.Gly301Ala
ENST00000619009.5:c.364+11382G>C	ENSP00000482293.1:n.364+11382G>C
ENST00000650978.1:c.801G>C
ENST00000260947.8:c.959G>C	ENSP00000260947.4:p.Gly320Ala
ENST00000421162.1:c.215+16146G>C	ENSP00000392245.1:n.215+16146G>C
ENST00000455743.5:c.*579G>C	ENSP00000412186.1:n.*579G>C
ENST00000471787.1:n.854G>C
ENST00000613192.1:c.73+28497G>C	ENSP00000483275.1:n.73+28497G>C
ENST00000613374.4:c.159-28360G>C	ENSP00000484464.1:n.159-28360G>C
ENST00000613706.4:c.215+16146G>C	ENSP00000484976.1:n.215+16146G>C
ENST00000617164.4:c.902G>C	ENSP00000480470.1:p.Gly301Ala
ENST00000619009.4:c.364+11382G>C	ENSP00000482293.1:n.364+11382G>C
ENST00000620057.4:c.364+11382G>C	ENSP00000481988.1:n.364+11382G>C
NM_000465.3:c.959G>C	NP_000456.2:p.Gly320Ala
NM_001282543.1:c.902G>C	NP_001269472.1:p.Gly301Ala
NM_001282545.1:c.215+16146G>C	NP_001269474.1:n.215+16146G>C
NM_001282548.1:c.159-28360G>C	NP_001269477.1:n.159-28360G>C
NM_001282549.1:c.364+11382G>C	NP_001269478.1:n.364+11382G>C
NR_104212.1:n.952G>C
NR_104215.1:n.895G>C
NR_104216.1:n.506+11382G>C
XM_011511567.1:c.905G>C	XP_011509869.1:p.Gly302Ala
XM_011511568.1:c.959G>C	XP_011509870.1:p.Gly320Ala
XM_017004613.1:c.1058G>C	XP_016860102.1:p.Gly353Ala
XM_017004614.1:c.1058G>C	XP_016860103.1:p.Gly353Ala
XR_002959322.1:n.1149G>C
NM_000465.4:c.959G>C MANE Select	NP_000456.2:p.Gly320Ala
NM_001282543.2:c.902G>C	NP_001269472.1:p.Gly301Ala
NM_001282545.2:c.215+16146G>C	NP_001269474.1:n.215+16146G>C
NM_001282548.2:c.159-28360G>C	NP_001269477.1:n.159-28360G>C
NM_001282549.2:c.364+11382G>C	NP_001269478.1:n.364+11382G>C
NR_104212.2:n.924G>C
NR_104215.2:n.867G>C
NR_104216.2:n.478+11382G>C