Canonical Allele Identifier: CA350451157

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595177A>C (hg19) ; chr2:g.214730453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730453A>C , CM000664.2:g.214730453A>C	GRCh38
NC_000002.11:g.215595177A>C , CM000664.1:g.215595177A>C	GRCh37
NC_000002.10:g.215303422A>C	NCBI36
NG_012047.2:g.84252T>G
NG_012047.3:g.84259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1959T>G MANE Select	ENSP00000260947.4:p.Ile653Met
ENST00000421162.2:c.606T>G	ENSP00000392245.2:p.Ile202Met
ENST00000613192.2:c.*22T>G	ENSP00000483275.2:n.*22T>G
ENST00000613374.5:c.549T>G	ENSP00000484464.1:p.Ile183Met
ENST00000613706.5:c.1551T>G	ENSP00000484976.2:p.Ile517Met
ENST00000617164.5:c.1902T>G	ENSP00000480470.1:p.Ile634Met
ENST00000619009.5:c.420T>G	ENSP00000482293.1:p.Ile140Met
ENST00000650978.1:c.3334T>G
ENST00000260947.8:c.1959T>G	ENSP00000260947.4:p.Ile653Met
ENST00000421162.1:c.606T>G	ENSP00000392245.1:p.Ile202Met
ENST00000432456.5:c.56T>G
ENST00000455743.5:c.*1579T>G	ENSP00000412186.1:n.*1579T>G
ENST00000471590.5:n.294T>G
ENST00000613192.1:c.129T>G	ENSP00000483275.1:p.Ile43Met
ENST00000613374.4:c.549T>G	ENSP00000484464.1:p.Ile183Met
ENST00000613706.4:c.606T>G	ENSP00000484976.1:p.Ile202Met
ENST00000617164.4:c.1902T>G	ENSP00000480470.1:p.Ile634Met
ENST00000619009.4:c.420T>G	ENSP00000482293.1:p.Ile140Met
ENST00000620057.4:c.*625T>G	ENSP00000481988.1:n.*625T>G
NM_000465.3:c.1959T>G	NP_000456.2:p.Ile653Met
NM_001282543.1:c.1902T>G	NP_001269472.1:p.Ile634Met
NM_001282545.1:c.606T>G	NP_001269474.1:p.Ile202Met
NM_001282548.1:c.549T>G	NP_001269477.1:p.Ile183Met
NM_001282549.1:c.420T>G	NP_001269478.1:p.Ile140Met
NR_104212.1:n.1952T>G
NR_104215.1:n.1895T>G
NR_104216.1:n.1151T>G
XM_011511567.1:c.1905T>G	XP_011509869.1:p.Ile635Met
XM_017004613.1:c.2058T>G	XP_016860102.1:p.Ile686Met
XR_002959322.1:n.2149T>G
NM_000465.4:c.1959T>G MANE Select	NP_000456.2:p.Ile653Met
NM_001282543.2:c.1902T>G	NP_001269472.1:p.Ile634Met
NM_001282545.2:c.606T>G	NP_001269474.1:p.Ile202Met
NM_001282548.2:c.549T>G	NP_001269477.1:p.Ile183Met
NM_001282549.2:c.420T>G	NP_001269478.1:p.Ile140Met
NR_104212.2:n.1924T>G
NR_104215.2:n.1867T>G
NR_104216.2:n.1123T>G