Canonical Allele Identifier: CA350451140

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595166G>C (hg19) ; chr2:g.214730442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730442G>C , CM000664.2:g.214730442G>C	GRCh38
NC_000002.11:g.215595166G>C , CM000664.1:g.215595166G>C	GRCh37
NC_000002.10:g.215303411G>C	NCBI36
NG_012047.2:g.84263C>G
NG_012047.3:g.84270C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1970C>G MANE Select	ENSP00000260947.4:p.Pro657Arg
ENST00000421162.2:c.617C>G	ENSP00000392245.2:p.Pro206Arg
ENST00000613192.2:c.*33C>G	ENSP00000483275.2:n.*33C>G
ENST00000613374.5:c.560C>G	ENSP00000484464.1:p.Pro187Arg
ENST00000613706.5:c.1562C>G	ENSP00000484976.2:p.Pro521Arg
ENST00000617164.5:c.1913C>G	ENSP00000480470.1:p.Pro638Arg
ENST00000619009.5:c.431C>G	ENSP00000482293.1:p.Pro144Arg
ENST00000650978.1:c.3345C>G
ENST00000260947.8:c.1970C>G	ENSP00000260947.4:p.Pro657Arg
ENST00000421162.1:c.617C>G	ENSP00000392245.1:p.Pro206Arg
ENST00000432456.5:c.67C>G
ENST00000455743.5:c.*1590C>G	ENSP00000412186.1:n.*1590C>G
ENST00000471590.5:n.305C>G
ENST00000613192.1:c.140C>G	ENSP00000483275.1:p.Pro47Arg
ENST00000613374.4:c.560C>G	ENSP00000484464.1:p.Pro187Arg
ENST00000613706.4:c.617C>G	ENSP00000484976.1:p.Pro206Arg
ENST00000617164.4:c.1913C>G	ENSP00000480470.1:p.Pro638Arg
ENST00000619009.4:c.431C>G	ENSP00000482293.1:p.Pro144Arg
ENST00000620057.4:c.*636C>G	ENSP00000481988.1:n.*636C>G
NM_000465.3:c.1970C>G	NP_000456.2:p.Pro657Arg
NM_001282543.1:c.1913C>G	NP_001269472.1:p.Pro638Arg
NM_001282545.1:c.617C>G	NP_001269474.1:p.Pro206Arg
NM_001282548.1:c.560C>G	NP_001269477.1:p.Pro187Arg
NM_001282549.1:c.431C>G	NP_001269478.1:p.Pro144Arg
NR_104212.1:n.1963C>G
NR_104215.1:n.1906C>G
NR_104216.1:n.1162C>G
XM_011511567.1:c.1916C>G	XP_011509869.1:p.Pro639Arg
XM_017004613.1:c.2069C>G	XP_016860102.1:p.Pro690Arg
XR_002959322.1:n.2160C>G
NM_000465.4:c.1970C>G MANE Select	NP_000456.2:p.Pro657Arg
NM_001282543.2:c.1913C>G	NP_001269472.1:p.Pro638Arg
NM_001282545.2:c.617C>G	NP_001269474.1:p.Pro206Arg
NM_001282548.2:c.560C>G	NP_001269477.1:p.Pro187Arg
NM_001282549.2:c.431C>G	NP_001269478.1:p.Pro144Arg
NR_104212.2:n.1935C>G
NR_104215.2:n.1878C>G
NR_104216.2:n.1134C>G