Canonical Allele Identifier: CA10577771

Gene: BARD1

Linked Data

• ClinVar Variation Id: 230393
• ClinVar RCV Id: RCV000216543
• dbSNP Id: rs876658544
• MyVariant Identifiers: chr2:g.215595143C>T (hg19) ; chr2:g.214730419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730419C>T , CM000664.2:g.214730419C>T	GRCh38
NC_000002.11:g.215595143C>T , CM000664.1:g.215595143C>T	GRCh37
NC_000002.10:g.215303388C>T	NCBI36
NG_012047.2:g.84286G>A
NG_012047.3:g.84293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1993G>A MANE Select	ENSP00000260947.4:p.Glu665Lys
ENST00000421162.2:c.640G>A	ENSP00000392245.2:p.Glu214Lys
ENST00000613192.2:c.*56G>A	ENSP00000483275.2:n.*56G>A
ENST00000613374.5:c.583G>A	ENSP00000484464.1:p.Glu195Lys
ENST00000613706.5:c.1585G>A	ENSP00000484976.2:p.Glu529Lys
ENST00000617164.5:c.1936G>A	ENSP00000480470.1:p.Glu646Lys
ENST00000619009.5:c.454G>A	ENSP00000482293.1:p.Glu152Lys
ENST00000650978.1:c.3368G>A
ENST00000260947.8:c.1993G>A	ENSP00000260947.4:p.Glu665Lys
ENST00000421162.1:c.640G>A	ENSP00000392245.1:p.Glu214Lys
ENST00000432456.5:c.90G>A
ENST00000455743.5:c.*1613G>A	ENSP00000412186.1:n.*1613G>A
ENST00000471590.5:n.328G>A
ENST00000613192.1:c.163G>A	ENSP00000483275.1:p.Glu55Lys
ENST00000613374.4:c.583G>A	ENSP00000484464.1:p.Glu195Lys
ENST00000613706.4:c.640G>A	ENSP00000484976.1:p.Glu214Lys
ENST00000617164.4:c.1936G>A	ENSP00000480470.1:p.Glu646Lys
ENST00000619009.4:c.454G>A	ENSP00000482293.1:p.Glu152Lys
ENST00000620057.4:c.*659G>A	ENSP00000481988.1:n.*659G>A
NM_000465.3:c.1993G>A	NP_000456.2:p.Glu665Lys
NM_001282543.1:c.1936G>A	NP_001269472.1:p.Glu646Lys
NM_001282545.1:c.640G>A	NP_001269474.1:p.Glu214Lys
NM_001282548.1:c.583G>A	NP_001269477.1:p.Glu195Lys
NM_001282549.1:c.454G>A	NP_001269478.1:p.Glu152Lys
NR_104212.1:n.1986G>A
NR_104215.1:n.1929G>A
NR_104216.1:n.1185G>A
XM_011511567.1:c.1939G>A	XP_011509869.1:p.Glu647Lys
XM_017004613.1:c.2092G>A	XP_016860102.1:p.Glu698Lys
XR_002959322.1:n.2183G>A
NM_000465.4:c.1993G>A MANE Select	NP_000456.2:p.Glu665Lys
NM_001282543.2:c.1936G>A	NP_001269472.1:p.Glu646Lys
NM_001282545.2:c.640G>A	NP_001269474.1:p.Glu214Lys
NM_001282548.2:c.583G>A	NP_001269477.1:p.Glu195Lys
NM_001282549.2:c.454G>A	NP_001269478.1:p.Glu152Lys
NR_104212.2:n.1958G>A
NR_104215.2:n.1901G>A
NR_104216.2:n.1157G>A