Canonical Allele Identifier: CA431136891

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215646214A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781490A>T , CM000664.2:g.214781490A>T	GRCh38
NC_000002.11:g.215646214A>T , CM000664.1:g.215646214A>T	GRCh37
NC_000002.10:g.215354459A>T	NCBI36
NG_012047.2:g.33215T>A
NG_012047.3:g.33222T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.384T>A MANE Select	ENSP00000260947.4:p.Pro128=
ENST00000421162.2:c.215+15571T>A	ENSP00000392245.2:n.215+15571T>A
ENST00000613192.2:c.158+27922T>A	ENSP00000483275.2:n.158+27922T>A
ENST00000613374.5:c.158+27922T>A	ENSP00000484464.1:n.158+27922T>A
ENST00000613706.5:c.384T>A	ENSP00000484976.2:p.Pro128=
ENST00000617164.5:c.327T>A	ENSP00000480470.1:p.Pro109=
ENST00000619009.5:c.364+10807T>A	ENSP00000482293.1:n.364+10807T>A
ENST00000650978.1:c.226T>A
ENST00000260947.8:c.384T>A	ENSP00000260947.4:p.Pro128=
ENST00000421162.1:c.215+15571T>A	ENSP00000392245.1:n.215+15571T>A
ENST00000455743.5:c.*4T>A	ENSP00000412186.1:n.*4T>A
ENST00000471787.1:n.279T>A
ENST00000613192.1:c.73+27922T>A	ENSP00000483275.1:n.73+27922T>A
ENST00000613374.4:c.158+27922T>A	ENSP00000484464.1:n.158+27922T>A
ENST00000613706.4:c.215+15571T>A	ENSP00000484976.1:n.215+15571T>A
ENST00000617164.4:c.327T>A	ENSP00000480470.1:p.Pro109=
ENST00000619009.4:c.364+10807T>A	ENSP00000482293.1:n.364+10807T>A
ENST00000620057.4:c.364+10807T>A	ENSP00000481988.1:n.364+10807T>A
NM_000465.3:c.384T>A	NP_000456.2:p.Pro128=
NM_001282543.1:c.327T>A	NP_001269472.1:p.Pro109=
NM_001282545.1:c.215+15571T>A	NP_001269474.1:n.215+15571T>A
NM_001282548.1:c.158+27922T>A	NP_001269477.1:n.158+27922T>A
NM_001282549.1:c.364+10807T>A	NP_001269478.1:n.364+10807T>A
NR_104212.1:n.377T>A
NR_104215.1:n.320T>A
NR_104216.1:n.506+10807T>A
XM_011511567.1:c.330T>A	XP_011509869.1:p.Pro110=
XM_011511568.1:c.384T>A	XP_011509870.1:p.Pro128=
XM_017004613.1:c.483T>A	XP_016860102.1:p.Pro161=
XM_017004614.1:c.483T>A	XP_016860103.1:p.Pro161=
XR_002959322.1:n.574T>A
NM_000465.4:c.384T>A MANE Select	NP_000456.2:p.Pro128=
NM_001282543.2:c.327T>A	NP_001269472.1:p.Pro109=
NM_001282545.2:c.215+15571T>A	NP_001269474.1:n.215+15571T>A
NM_001282548.2:c.158+27922T>A	NP_001269477.1:n.158+27922T>A
NM_001282549.2:c.364+10807T>A	NP_001269478.1:n.364+10807T>A
NR_104212.2:n.349T>A
NR_104215.2:n.292T>A
NR_104216.2:n.478+10807T>A