Canonical Allele Identifier: CA350455290

Gene: BARD1

Linked Data

• ClinVar Variation Id: 660512
• ClinVar RCV Id: RCV000817721 ; RCV001017817
• dbSNP Id: rs1574819001
• MyVariant Identifiers: chr2:g.215645754A>T (hg19) ; chr2:g.214781030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781030A>T , CM000664.2:g.214781030A>T	GRCh38
NC_000002.11:g.215645754A>T , CM000664.1:g.215645754A>T	GRCh37
NC_000002.10:g.215353999A>T	NCBI36
NG_012047.2:g.33675T>A
NG_012047.3:g.33682T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.844T>A MANE Select	ENSP00000260947.4:p.Leu282Met
ENST00000421162.2:c.215+16031T>A	ENSP00000392245.2:n.215+16031T>A
ENST00000613192.2:c.158+28382T>A	ENSP00000483275.2:n.158+28382T>A
ENST00000613374.5:c.158+28382T>A	ENSP00000484464.1:n.158+28382T>A
ENST00000613706.5:c.844T>A	ENSP00000484976.2:p.Leu282Met
ENST00000617164.5:c.787T>A	ENSP00000480470.1:p.Leu263Met
ENST00000619009.5:c.364+11267T>A	ENSP00000482293.1:n.364+11267T>A
ENST00000650978.1:c.686T>A
ENST00000260947.8:c.844T>A	ENSP00000260947.4:p.Leu282Met
ENST00000421162.1:c.215+16031T>A	ENSP00000392245.1:n.215+16031T>A
ENST00000455743.5:c.*464T>A	ENSP00000412186.1:n.*464T>A
ENST00000471787.1:n.739T>A
ENST00000613192.1:c.73+28382T>A	ENSP00000483275.1:n.73+28382T>A
ENST00000613374.4:c.158+28382T>A	ENSP00000484464.1:n.158+28382T>A
ENST00000613706.4:c.215+16031T>A	ENSP00000484976.1:n.215+16031T>A
ENST00000617164.4:c.787T>A	ENSP00000480470.1:p.Leu263Met
ENST00000619009.4:c.364+11267T>A	ENSP00000482293.1:n.364+11267T>A
ENST00000620057.4:c.364+11267T>A	ENSP00000481988.1:n.364+11267T>A
NM_000465.3:c.844T>A	NP_000456.2:p.Leu282Met
NM_001282543.1:c.787T>A	NP_001269472.1:p.Leu263Met
NM_001282545.1:c.215+16031T>A	NP_001269474.1:n.215+16031T>A
NM_001282548.1:c.158+28382T>A	NP_001269477.1:n.158+28382T>A
NM_001282549.1:c.364+11267T>A	NP_001269478.1:n.364+11267T>A
NR_104212.1:n.837T>A
NR_104215.1:n.780T>A
NR_104216.1:n.506+11267T>A
XM_011511567.1:c.790T>A	XP_011509869.1:p.Leu264Met
XM_011511568.1:c.844T>A	XP_011509870.1:p.Leu282Met
XM_017004613.1:c.943T>A	XP_016860102.1:p.Leu315Met
XM_017004614.1:c.943T>A	XP_016860103.1:p.Leu315Met
XR_002959322.1:n.1034T>A
NM_000465.4:c.844T>A MANE Select	NP_000456.2:p.Leu282Met
NM_001282543.2:c.787T>A	NP_001269472.1:p.Leu263Met
NM_001282545.2:c.215+16031T>A	NP_001269474.1:n.215+16031T>A
NM_001282548.2:c.158+28382T>A	NP_001269477.1:n.158+28382T>A
NM_001282549.2:c.364+11267T>A	NP_001269478.1:n.364+11267T>A
NR_104212.2:n.809T>A
NR_104215.2:n.752T>A
NR_104216.2:n.478+11267T>A