Canonical Allele Identifier: CA431136539

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215646187T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781463T>A , CM000664.2:g.214781463T>A	GRCh38
NC_000002.11:g.215646187T>A , CM000664.1:g.215646187T>A	GRCh37
NC_000002.10:g.215354432T>A	NCBI36
NG_012047.2:g.33242A>T
NG_012047.3:g.33249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.411A>T MANE Select	ENSP00000260947.4:p.Gly137=
ENST00000421162.2:c.215+15598A>T	ENSP00000392245.2:n.215+15598A>T
ENST00000613192.2:c.158+27949A>T	ENSP00000483275.2:n.158+27949A>T
ENST00000613374.5:c.158+27949A>T	ENSP00000484464.1:n.158+27949A>T
ENST00000613706.5:c.411A>T	ENSP00000484976.2:p.Gly137=
ENST00000617164.5:c.354A>T	ENSP00000480470.1:p.Gly118=
ENST00000619009.5:c.364+10834A>T	ENSP00000482293.1:n.364+10834A>T
ENST00000650978.1:c.253A>T
ENST00000260947.8:c.411A>T	ENSP00000260947.4:p.Gly137=
ENST00000421162.1:c.215+15598A>T	ENSP00000392245.1:n.215+15598A>T
ENST00000455743.5:c.*31A>T	ENSP00000412186.1:n.*31A>T
ENST00000471787.1:n.306A>T
ENST00000613192.1:c.73+27949A>T	ENSP00000483275.1:n.73+27949A>T
ENST00000613374.4:c.158+27949A>T	ENSP00000484464.1:n.158+27949A>T
ENST00000613706.4:c.215+15598A>T	ENSP00000484976.1:n.215+15598A>T
ENST00000617164.4:c.354A>T	ENSP00000480470.1:p.Gly118=
ENST00000619009.4:c.364+10834A>T	ENSP00000482293.1:n.364+10834A>T
ENST00000620057.4:c.364+10834A>T	ENSP00000481988.1:n.364+10834A>T
NM_000465.3:c.411A>T	NP_000456.2:p.Gly137=
NM_001282543.1:c.354A>T	NP_001269472.1:p.Gly118=
NM_001282545.1:c.215+15598A>T	NP_001269474.1:n.215+15598A>T
NM_001282548.1:c.158+27949A>T	NP_001269477.1:n.158+27949A>T
NM_001282549.1:c.364+10834A>T	NP_001269478.1:n.364+10834A>T
NR_104212.1:n.404A>T
NR_104215.1:n.347A>T
NR_104216.1:n.506+10834A>T
XM_011511567.1:c.357A>T	XP_011509869.1:p.Gly119=
XM_011511568.1:c.411A>T	XP_011509870.1:p.Gly137=
XM_017004613.1:c.510A>T	XP_016860102.1:p.Gly170=
XM_017004614.1:c.510A>T	XP_016860103.1:p.Gly170=
XR_002959322.1:n.601A>T
NM_000465.4:c.411A>T MANE Select	NP_000456.2:p.Gly137=
NM_001282543.2:c.354A>T	NP_001269472.1:p.Gly118=
NM_001282545.2:c.215+15598A>T	NP_001269474.1:n.215+15598A>T
NM_001282548.2:c.158+27949A>T	NP_001269477.1:n.158+27949A>T
NM_001282549.2:c.364+10834A>T	NP_001269478.1:n.364+10834A>T
NR_104212.2:n.376A>T
NR_104215.2:n.319A>T
NR_104216.2:n.478+10834A>T