Canonical Allele Identifier: CA431139382

Gene: BARD1

Linked Data

• ClinVar Variation Id: 919129
• ClinVar RCV Id: RCV001177111 ; RCV001439731
• dbSNP Id: rs1692302613
• gnomAD v4: 2-214730462-C-T
• MyVariant Identifiers: chr2:g.215595186C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730462C>T , CM000664.2:g.214730462C>T	GRCh38
NC_000002.11:g.215595186C>T , CM000664.1:g.215595186C>T	GRCh37
NC_000002.10:g.215303431C>T	NCBI36
NG_012047.2:g.84243G>A
NG_012047.3:g.84250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1950G>A MANE Select	ENSP00000260947.4:p.Lys650=
ENST00000421162.2:c.597G>A	ENSP00000392245.2:p.Lys199=
ENST00000613192.2:c.*13G>A	ENSP00000483275.2:n.*13G>A
ENST00000613374.5:c.540G>A	ENSP00000484464.1:p.Lys180=
ENST00000613706.5:c.1542G>A	ENSP00000484976.2:p.Lys514=
ENST00000617164.5:c.1893G>A	ENSP00000480470.1:p.Lys631=
ENST00000619009.5:c.411G>A	ENSP00000482293.1:p.Lys137=
ENST00000650978.1:c.3325G>A
ENST00000260947.8:c.1950G>A	ENSP00000260947.4:p.Lys650=
ENST00000421162.1:c.597G>A	ENSP00000392245.1:p.Lys199=
ENST00000432456.5:c.47G>A
ENST00000455743.5:c.*1570G>A	ENSP00000412186.1:n.*1570G>A
ENST00000471590.5:n.285G>A
ENST00000613192.1:c.120G>A	ENSP00000483275.1:p.Lys40=
ENST00000613374.4:c.540G>A	ENSP00000484464.1:p.Lys180=
ENST00000613706.4:c.597G>A	ENSP00000484976.1:p.Lys199=
ENST00000617164.4:c.1893G>A	ENSP00000480470.1:p.Lys631=
ENST00000619009.4:c.411G>A	ENSP00000482293.1:p.Lys137=
ENST00000620057.4:c.*616G>A	ENSP00000481988.1:n.*616G>A
NM_000465.3:c.1950G>A	NP_000456.2:p.Lys650=
NM_001282543.1:c.1893G>A	NP_001269472.1:p.Lys631=
NM_001282545.1:c.597G>A	NP_001269474.1:p.Lys199=
NM_001282548.1:c.540G>A	NP_001269477.1:p.Lys180=
NM_001282549.1:c.411G>A	NP_001269478.1:p.Lys137=
NR_104212.1:n.1943G>A
NR_104215.1:n.1886G>A
NR_104216.1:n.1142G>A
XM_011511567.1:c.1896G>A	XP_011509869.1:p.Lys632=
XM_017004613.1:c.2049G>A	XP_016860102.1:p.Lys683=
XR_002959322.1:n.2140G>A
NM_000465.4:c.1950G>A MANE Select	NP_000456.2:p.Lys650=
NM_001282543.2:c.1893G>A	NP_001269472.1:p.Lys631=
NM_001282545.2:c.597G>A	NP_001269474.1:p.Lys199=
NM_001282548.2:c.540G>A	NP_001269477.1:p.Lys180=
NM_001282549.2:c.411G>A	NP_001269478.1:p.Lys137=
NR_104212.2:n.1915G>A
NR_104215.2:n.1858G>A
NR_104216.2:n.1114G>A