Canonical Allele Identifier: CA350454597

Gene: BARD1

Linked Data

• ClinVar Variation Id: 568468
• ClinVar RCV Id: RCV000688836 ; RCV000771636
• dbSNP Id: rs587780038
• gnomAD v4: 2-214780898-T-G
• MyVariant Identifiers: chr2:g.215645622T>G (hg19) ; chr2:g.214780898T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780898T>G , CM000664.2:g.214780898T>G	GRCh38
NC_000002.11:g.215645622T>G , CM000664.1:g.215645622T>G	GRCh37
NC_000002.10:g.215353867T>G	NCBI36
NG_012047.2:g.33807A>C
NG_012047.3:g.33814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.976A>C MANE Select	ENSP00000260947.4:p.Asn326His
ENST00000421162.2:c.215+16163A>C	ENSP00000392245.2:n.215+16163A>C
ENST00000613192.2:c.158+28514A>C	ENSP00000483275.2:n.158+28514A>C
ENST00000613374.5:c.159-28343A>C	ENSP00000484464.1:n.159-28343A>C
ENST00000613706.5:c.906+70A>C	ENSP00000484976.2:n.906+70A>C
ENST00000617164.5:c.919A>C	ENSP00000480470.1:p.Asn307His
ENST00000619009.5:c.364+11399A>C	ENSP00000482293.1:n.364+11399A>C
ENST00000650978.1:c.818A>C
ENST00000260947.8:c.976A>C	ENSP00000260947.4:p.Asn326His
ENST00000421162.1:c.215+16163A>C	ENSP00000392245.1:n.215+16163A>C
ENST00000455743.5:c.*596A>C	ENSP00000412186.1:n.*596A>C
ENST00000471787.1:n.871A>C
ENST00000613192.1:c.73+28514A>C	ENSP00000483275.1:n.73+28514A>C
ENST00000613374.4:c.159-28343A>C	ENSP00000484464.1:n.159-28343A>C
ENST00000613706.4:c.215+16163A>C	ENSP00000484976.1:n.215+16163A>C
ENST00000617164.4:c.919A>C	ENSP00000480470.1:p.Asn307His
ENST00000619009.4:c.364+11399A>C	ENSP00000482293.1:n.364+11399A>C
ENST00000620057.4:c.364+11399A>C	ENSP00000481988.1:n.364+11399A>C
NM_000465.3:c.976A>C	NP_000456.2:p.Asn326His
NM_001282543.1:c.919A>C	NP_001269472.1:p.Asn307His
NM_001282545.1:c.215+16163A>C	NP_001269474.1:n.215+16163A>C
NM_001282548.1:c.159-28343A>C	NP_001269477.1:n.159-28343A>C
NM_001282549.1:c.364+11399A>C	NP_001269478.1:n.364+11399A>C
NR_104212.1:n.969A>C
NR_104215.1:n.912A>C
NR_104216.1:n.506+11399A>C
XM_011511567.1:c.922A>C	XP_011509869.1:p.Asn308His
XM_011511568.1:c.976A>C	XP_011509870.1:p.Asn326His
XM_017004613.1:c.1075A>C	XP_016860102.1:p.Asn359His
XM_017004614.1:c.1075A>C	XP_016860103.1:p.Asn359His
XR_002959322.1:n.1166A>C
NM_000465.4:c.976A>C MANE Select	NP_000456.2:p.Asn326His
NM_001282543.2:c.919A>C	NP_001269472.1:p.Asn307His
NM_001282545.2:c.215+16163A>C	NP_001269474.1:n.215+16163A>C
NM_001282548.2:c.159-28343A>C	NP_001269477.1:n.159-28343A>C
NM_001282549.2:c.364+11399A>C	NP_001269478.1:n.364+11399A>C
NR_104212.2:n.941A>C
NR_104215.2:n.884A>C
NR_104216.2:n.478+11399A>C