Canonical Allele Identifier: CA350458118

Gene: BARD1

Linked Data

• dbSNP Id: rs1553622703
• MyVariant Identifiers: chr2:g.215646202C>G (hg19) ; chr2:g.214781478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781478C>G , CM000664.2:g.214781478C>G	GRCh38
NC_000002.11:g.215646202C>G , CM000664.1:g.215646202C>G	GRCh37
NC_000002.10:g.215354447C>G	NCBI36
NG_012047.2:g.33227G>C
NG_012047.3:g.33234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.396G>C MANE Select	ENSP00000260947.4:p.Leu132Phe
ENST00000421162.2:c.215+15583G>C	ENSP00000392245.2:n.215+15583G>C
ENST00000613192.2:c.158+27934G>C	ENSP00000483275.2:n.158+27934G>C
ENST00000613374.5:c.158+27934G>C	ENSP00000484464.1:n.158+27934G>C
ENST00000613706.5:c.396G>C	ENSP00000484976.2:p.Leu132Phe
ENST00000617164.5:c.339G>C	ENSP00000480470.1:p.Leu113Phe
ENST00000619009.5:c.364+10819G>C	ENSP00000482293.1:n.364+10819G>C
ENST00000650978.1:c.238G>C
ENST00000260947.8:c.396G>C	ENSP00000260947.4:p.Leu132Phe
ENST00000421162.1:c.215+15583G>C	ENSP00000392245.1:n.215+15583G>C
ENST00000455743.5:c.*16G>C	ENSP00000412186.1:n.*16G>C
ENST00000471787.1:n.291G>C
ENST00000613192.1:c.73+27934G>C	ENSP00000483275.1:n.73+27934G>C
ENST00000613374.4:c.158+27934G>C	ENSP00000484464.1:n.158+27934G>C
ENST00000613706.4:c.215+15583G>C	ENSP00000484976.1:n.215+15583G>C
ENST00000617164.4:c.339G>C	ENSP00000480470.1:p.Leu113Phe
ENST00000619009.4:c.364+10819G>C	ENSP00000482293.1:n.364+10819G>C
ENST00000620057.4:c.364+10819G>C	ENSP00000481988.1:n.364+10819G>C
NM_000465.3:c.396G>C	NP_000456.2:p.Leu132Phe
NM_001282543.1:c.339G>C	NP_001269472.1:p.Leu113Phe
NM_001282545.1:c.215+15583G>C	NP_001269474.1:n.215+15583G>C
NM_001282548.1:c.158+27934G>C	NP_001269477.1:n.158+27934G>C
NM_001282549.1:c.364+10819G>C	NP_001269478.1:n.364+10819G>C
NR_104212.1:n.389G>C
NR_104215.1:n.332G>C
NR_104216.1:n.506+10819G>C
XM_011511567.1:c.342G>C	XP_011509869.1:p.Leu114Phe
XM_011511568.1:c.396G>C	XP_011509870.1:p.Leu132Phe
XM_017004613.1:c.495G>C	XP_016860102.1:p.Leu165Phe
XM_017004614.1:c.495G>C	XP_016860103.1:p.Leu165Phe
XR_002959322.1:n.586G>C
NM_000465.4:c.396G>C MANE Select	NP_000456.2:p.Leu132Phe
NM_001282543.2:c.339G>C	NP_001269472.1:p.Leu113Phe
NM_001282545.2:c.215+15583G>C	NP_001269474.1:n.215+15583G>C
NM_001282548.2:c.158+27934G>C	NP_001269477.1:n.158+27934G>C
NM_001282549.2:c.364+10819G>C	NP_001269478.1:n.364+10819G>C
NR_104212.2:n.361G>C
NR_104215.2:n.304G>C
NR_104216.2:n.478+10819G>C