Canonical Allele Identifier: CA350458221

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215646212C>T (hg19) ; chr2:g.214781488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781488C>T , CM000664.2:g.214781488C>T	GRCh38
NC_000002.11:g.215646212C>T , CM000664.1:g.215646212C>T	GRCh37
NC_000002.10:g.215354457C>T	NCBI36
NG_012047.2:g.33217G>A
NG_012047.3:g.33224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.386G>A MANE Select	ENSP00000260947.4:p.Arg129Lys
ENST00000421162.2:c.215+15573G>A	ENSP00000392245.2:n.215+15573G>A
ENST00000613192.2:c.158+27924G>A	ENSP00000483275.2:n.158+27924G>A
ENST00000613374.5:c.158+27924G>A	ENSP00000484464.1:n.158+27924G>A
ENST00000613706.5:c.386G>A	ENSP00000484976.2:p.Arg129Lys
ENST00000617164.5:c.329G>A	ENSP00000480470.1:p.Arg110Lys
ENST00000619009.5:c.364+10809G>A	ENSP00000482293.1:n.364+10809G>A
ENST00000650978.1:c.228G>A
ENST00000260947.8:c.386G>A	ENSP00000260947.4:p.Arg129Lys
ENST00000421162.1:c.215+15573G>A	ENSP00000392245.1:n.215+15573G>A
ENST00000455743.5:c.*6G>A	ENSP00000412186.1:n.*6G>A
ENST00000471787.1:n.281G>A
ENST00000613192.1:c.73+27924G>A	ENSP00000483275.1:n.73+27924G>A
ENST00000613374.4:c.158+27924G>A	ENSP00000484464.1:n.158+27924G>A
ENST00000613706.4:c.215+15573G>A	ENSP00000484976.1:n.215+15573G>A
ENST00000617164.4:c.329G>A	ENSP00000480470.1:p.Arg110Lys
ENST00000619009.4:c.364+10809G>A	ENSP00000482293.1:n.364+10809G>A
ENST00000620057.4:c.364+10809G>A	ENSP00000481988.1:n.364+10809G>A
NM_000465.3:c.386G>A	NP_000456.2:p.Arg129Lys
NM_001282543.1:c.329G>A	NP_001269472.1:p.Arg110Lys
NM_001282545.1:c.215+15573G>A	NP_001269474.1:n.215+15573G>A
NM_001282548.1:c.158+27924G>A	NP_001269477.1:n.158+27924G>A
NM_001282549.1:c.364+10809G>A	NP_001269478.1:n.364+10809G>A
NR_104212.1:n.379G>A
NR_104215.1:n.322G>A
NR_104216.1:n.506+10809G>A
XM_011511567.1:c.332G>A	XP_011509869.1:p.Arg111Lys
XM_011511568.1:c.386G>A	XP_011509870.1:p.Arg129Lys
XM_017004613.1:c.485G>A	XP_016860102.1:p.Arg162Lys
XM_017004614.1:c.485G>A	XP_016860103.1:p.Arg162Lys
XR_002959322.1:n.576G>A
NM_000465.4:c.386G>A MANE Select	NP_000456.2:p.Arg129Lys
NM_001282543.2:c.329G>A	NP_001269472.1:p.Arg110Lys
NM_001282545.2:c.215+15573G>A	NP_001269474.1:n.215+15573G>A
NM_001282548.2:c.158+27924G>A	NP_001269477.1:n.158+27924G>A
NM_001282549.2:c.364+10809G>A	NP_001269478.1:n.364+10809G>A
NR_104212.2:n.351G>A
NR_104215.2:n.294G>A
NR_104216.2:n.478+10809G>A