Canonical Allele Identifier: CA350451099

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595143C>A (hg19) ; chr2:g.214730419C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1993G>T MANE Select	ENSP00000260947.4:p.Glu665Ter
ENST00000421162.2:c.640G>T	ENSP00000392245.2:p.Glu214Ter
ENST00000613192.2:c.*56G>T	ENSP00000483275.2:n.*56G>T
ENST00000613374.5:c.583G>T	ENSP00000484464.1:p.Glu195Ter
ENST00000613706.5:c.1585G>T	ENSP00000484976.2:p.Glu529Ter
ENST00000617164.5:c.1936G>T	ENSP00000480470.1:p.Glu646Ter
ENST00000619009.5:c.454G>T	ENSP00000482293.1:p.Glu152Ter
ENST00000650978.1:c.3368G>T
ENST00000260947.8:c.1993G>T	ENSP00000260947.4:p.Glu665Ter
ENST00000421162.1:c.640G>T	ENSP00000392245.1:p.Glu214Ter
ENST00000432456.5:c.90G>T
ENST00000455743.5:c.*1613G>T	ENSP00000412186.1:n.*1613G>T
ENST00000471590.5:n.328G>T
ENST00000613192.1:c.163G>T	ENSP00000483275.1:p.Glu55Ter
ENST00000613374.4:c.583G>T	ENSP00000484464.1:p.Glu195Ter
ENST00000613706.4:c.640G>T	ENSP00000484976.1:p.Glu214Ter
ENST00000617164.4:c.1936G>T	ENSP00000480470.1:p.Glu646Ter
ENST00000619009.4:c.454G>T	ENSP00000482293.1:p.Glu152Ter
ENST00000620057.4:c.*659G>T	ENSP00000481988.1:n.*659G>T
NM_000465.3:c.1993G>T	NP_000456.2:p.Glu665Ter
NM_001282543.1:c.1936G>T	NP_001269472.1:p.Glu646Ter
NM_001282545.1:c.640G>T	NP_001269474.1:p.Glu214Ter
NM_001282548.1:c.583G>T	NP_001269477.1:p.Glu195Ter
NM_001282549.1:c.454G>T	NP_001269478.1:p.Glu152Ter
NR_104212.1:n.1986G>T
NR_104215.1:n.1929G>T
NR_104216.1:n.1185G>T
XM_011511567.1:c.1939G>T	XP_011509869.1:p.Glu647Ter
XM_017004613.1:c.2092G>T	XP_016860102.1:p.Glu698Ter
XR_002959322.1:n.2183G>T
NM_000465.4:c.1993G>T MANE Select	NP_000456.2:p.Glu665Ter
NM_001282543.2:c.1936G>T	NP_001269472.1:p.Glu646Ter
NM_001282545.2:c.640G>T	NP_001269474.1:p.Glu214Ter
NM_001282548.2:c.583G>T	NP_001269477.1:p.Glu195Ter
NM_001282549.2:c.454G>T	NP_001269478.1:p.Glu152Ter
NR_104212.2:n.1958G>T
NR_104215.2:n.1901G>T
NR_104216.2:n.1157G>T