Canonical Allele Identifier: CA350464876

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530165
• ClinVar RCV Id: RCV000635865 ; RCV000758766 ; RCV001264479 ; RCV001011122
• dbSNP Id: rs1553628365
• gnomAD v4: 2-214809437-C-T
• MyVariant Identifiers: chr2:g.215674161C>T (hg19) ; chr2:g.214809437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809437C>T , CM000664.2:g.214809437C>T	GRCh38
NC_000002.11:g.215674161C>T , CM000664.1:g.215674161C>T	GRCh37
NC_000002.10:g.215382406C>T	NCBI36
NG_012047.2:g.5268G>A
NG_012047.3:g.5275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.133G>A MANE Select	ENSP00000260947.4:p.Glu45Lys
ENST00000421162.2:c.133G>A	ENSP00000392245.2:p.Glu45Lys
ENST00000613192.2:c.133G>A	ENSP00000483275.2:p.Glu45Lys
ENST00000613374.5:c.133G>A	ENSP00000484464.1:p.Glu45Lys
ENST00000613706.5:c.133G>A	ENSP00000484976.2:p.Glu45Lys
ENST00000617164.5:c.133G>A	ENSP00000480470.1:p.Glu45Lys
ENST00000619009.5:c.133G>A	ENSP00000482293.1:p.Glu45Lys
ENST00000260947.8:c.133G>A	ENSP00000260947.4:p.Glu45Lys
ENST00000421162.1:c.133G>A	ENSP00000392245.1:p.Glu45Lys
ENST00000455743.5:c.133G>A	ENSP00000412186.1:p.Glu45Lys
ENST00000471787.1:n.234G>A
ENST00000479904.1:n.224G>A
ENST00000613192.1:c.48G>A	ENSP00000483275.1:p.Trp16Ter
ENST00000613374.4:c.133G>A	ENSP00000484464.1:p.Glu45Lys
ENST00000613706.4:c.133G>A	ENSP00000484976.1:p.Glu45Lys
ENST00000617164.4:c.133G>A	ENSP00000480470.1:p.Glu45Lys
ENST00000619009.4:c.133G>A	ENSP00000482293.1:p.Glu45Lys
ENST00000620057.4:c.133G>A	ENSP00000481988.1:p.Glu45Lys
NM_000465.3:c.133G>A	NP_000456.2:p.Glu45Lys
NM_001282543.1:c.133G>A	NP_001269472.1:p.Glu45Lys
NM_001282545.1:c.133G>A	NP_001269474.1:p.Glu45Lys
NM_001282548.1:c.133G>A	NP_001269477.1:p.Glu45Lys
NM_001282549.1:c.133G>A	NP_001269478.1:p.Glu45Lys
NR_104212.1:n.275G>A
NR_104215.1:n.275G>A
NR_104216.1:n.275G>A
XM_011511568.1:c.133G>A	XP_011509870.1:p.Glu45Lys
XM_017004613.1:c.133G>A	XP_016860102.1:p.Glu45Lys
XM_017004614.1:c.133G>A	XP_016860103.1:p.Glu45Lys
XR_002959322.1:n.224G>A
NM_000465.4:c.133G>A MANE Select	NP_000456.2:p.Glu45Lys
NM_001282543.2:c.133G>A	NP_001269472.1:p.Glu45Lys
NM_001282545.2:c.133G>A	NP_001269474.1:p.Glu45Lys
NM_001282548.2:c.133G>A	NP_001269477.1:p.Glu45Lys
NM_001282549.2:c.133G>A	NP_001269478.1:p.Glu45Lys
NR_104212.2:n.247G>A
NR_104215.2:n.247G>A
NR_104216.2:n.247G>A