Canonical Allele Identifier: CA350458075

Gene: BARD1

Linked Data

• ClinVar Variation Id: 627689
• ClinVar RCV Id: RCV000771352 ; RCV001060673
• dbSNP Id: rs1559426297
• MyVariant Identifiers: chr2:g.215646197T>G (hg19) ; chr2:g.214781473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781473T>G , CM000664.2:g.214781473T>G	GRCh38
NC_000002.11:g.215646197T>G , CM000664.1:g.215646197T>G	GRCh37
NC_000002.10:g.215354442T>G	NCBI36
NG_012047.2:g.33232A>C
NG_012047.3:g.33239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.401A>C MANE Select	ENSP00000260947.4:p.Asn134Thr
ENST00000421162.2:c.215+15588A>C	ENSP00000392245.2:n.215+15588A>C
ENST00000613192.2:c.158+27939A>C	ENSP00000483275.2:n.158+27939A>C
ENST00000613374.5:c.158+27939A>C	ENSP00000484464.1:n.158+27939A>C
ENST00000613706.5:c.401A>C	ENSP00000484976.2:p.Asn134Thr
ENST00000617164.5:c.344A>C	ENSP00000480470.1:p.Asn115Thr
ENST00000619009.5:c.364+10824A>C	ENSP00000482293.1:n.364+10824A>C
ENST00000650978.1:c.243A>C
ENST00000260947.8:c.401A>C	ENSP00000260947.4:p.Asn134Thr
ENST00000421162.1:c.215+15588A>C	ENSP00000392245.1:n.215+15588A>C
ENST00000455743.5:c.*21A>C	ENSP00000412186.1:n.*21A>C
ENST00000471787.1:n.296A>C
ENST00000613192.1:c.73+27939A>C	ENSP00000483275.1:n.73+27939A>C
ENST00000613374.4:c.158+27939A>C	ENSP00000484464.1:n.158+27939A>C
ENST00000613706.4:c.215+15588A>C	ENSP00000484976.1:n.215+15588A>C
ENST00000617164.4:c.344A>C	ENSP00000480470.1:p.Asn115Thr
ENST00000619009.4:c.364+10824A>C	ENSP00000482293.1:n.364+10824A>C
ENST00000620057.4:c.364+10824A>C	ENSP00000481988.1:n.364+10824A>C
NM_000465.3:c.401A>C	NP_000456.2:p.Asn134Thr
NM_001282543.1:c.344A>C	NP_001269472.1:p.Asn115Thr
NM_001282545.1:c.215+15588A>C	NP_001269474.1:n.215+15588A>C
NM_001282548.1:c.158+27939A>C	NP_001269477.1:n.158+27939A>C
NM_001282549.1:c.364+10824A>C	NP_001269478.1:n.364+10824A>C
NR_104212.1:n.394A>C
NR_104215.1:n.337A>C
NR_104216.1:n.506+10824A>C
XM_011511567.1:c.347A>C	XP_011509869.1:p.Asn116Thr
XM_011511568.1:c.401A>C	XP_011509870.1:p.Asn134Thr
XM_017004613.1:c.500A>C	XP_016860102.1:p.Asn167Thr
XM_017004614.1:c.500A>C	XP_016860103.1:p.Asn167Thr
XR_002959322.1:n.591A>C
NM_000465.4:c.401A>C MANE Select	NP_000456.2:p.Asn134Thr
NM_001282543.2:c.344A>C	NP_001269472.1:p.Asn115Thr
NM_001282545.2:c.215+15588A>C	NP_001269474.1:n.215+15588A>C
NM_001282548.2:c.158+27939A>C	NP_001269477.1:n.158+27939A>C
NM_001282549.2:c.364+10824A>C	NP_001269478.1:n.364+10824A>C
NR_104212.2:n.366A>C
NR_104215.2:n.309A>C
NR_104216.2:n.478+10824A>C