Canonical Allele Identifier: CA350451311

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1782531
• ClinVar RCV Id: RCV002410564
• MyVariant Identifiers: chr2:g.215595223G>C (hg19) ; chr2:g.214730499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730499G>C , CM000664.2:g.214730499G>C	GRCh38
NC_000002.11:g.215595223G>C , CM000664.1:g.215595223G>C	GRCh37
NC_000002.10:g.215303468G>C	NCBI36
NG_012047.2:g.84206C>G
NG_012047.3:g.84213C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1913C>G MANE Select	ENSP00000260947.4:p.Ala638Gly
ENST00000421162.2:c.560C>G	ENSP00000392245.2:p.Ala187Gly
ENST00000613192.2:c.168C>G	ENSP00000483275.2:p.Ser56Arg
ENST00000613374.5:c.503C>G	ENSP00000484464.1:p.Ala168Gly
ENST00000613706.5:c.1505C>G	ENSP00000484976.2:p.Ala502Gly
ENST00000617164.5:c.1856C>G	ENSP00000480470.1:p.Ala619Gly
ENST00000619009.5:c.374C>G	ENSP00000482293.1:p.Ala125Gly
ENST00000650978.1:c.3288C>G
ENST00000260947.8:c.1913C>G	ENSP00000260947.4:p.Ala638Gly
ENST00000421162.1:c.560C>G	ENSP00000392245.1:p.Ala187Gly
ENST00000432456.5:c.10C>G
ENST00000455743.5:c.*1533C>G	ENSP00000412186.1:n.*1533C>G
ENST00000471590.5:n.248C>G
ENST00000613192.1:c.83C>G	ENSP00000483275.1:p.Ala28Gly
ENST00000613374.4:c.503C>G	ENSP00000484464.1:p.Ala168Gly
ENST00000613706.4:c.560C>G	ENSP00000484976.1:p.Ala187Gly
ENST00000617164.4:c.1856C>G	ENSP00000480470.1:p.Ala619Gly
ENST00000619009.4:c.374C>G	ENSP00000482293.1:p.Ala125Gly
ENST00000620057.4:c.*579C>G	ENSP00000481988.1:n.*579C>G
NM_000465.3:c.1913C>G	NP_000456.2:p.Ala638Gly
NM_001282543.1:c.1856C>G	NP_001269472.1:p.Ala619Gly
NM_001282545.1:c.560C>G	NP_001269474.1:p.Ala187Gly
NM_001282548.1:c.503C>G	NP_001269477.1:p.Ala168Gly
NM_001282549.1:c.374C>G	NP_001269478.1:p.Ala125Gly
NR_104212.1:n.1906C>G
NR_104215.1:n.1849C>G
NR_104216.1:n.1105C>G
XM_011511567.1:c.1859C>G	XP_011509869.1:p.Ala620Gly
XM_017004613.1:c.2012C>G	XP_016860102.1:p.Ala671Gly
XR_002959322.1:n.2103C>G
NM_000465.4:c.1913C>G MANE Select	NP_000456.2:p.Ala638Gly
NM_001282543.2:c.1856C>G	NP_001269472.1:p.Ala619Gly
NM_001282545.2:c.560C>G	NP_001269474.1:p.Ala187Gly
NM_001282548.2:c.503C>G	NP_001269477.1:p.Ala168Gly
NM_001282549.2:c.374C>G	NP_001269478.1:p.Ala125Gly
NR_104212.2:n.1878C>G
NR_104215.2:n.1821C>G
NR_104216.2:n.1077C>G