Canonical Allele Identifier: CA350449824

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2765043
• ClinVar RCV Id: RCV003500336
• MyVariant Identifiers: chr2:g.215593438A>C (hg19) ; chr2:g.214728714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728714A>C , CM000664.2:g.214728714A>C	GRCh38
NC_000002.11:g.215593438A>C , CM000664.1:g.215593438A>C	GRCh37
NC_000002.10:g.215301683A>C	NCBI36
NG_012047.2:g.85991T>G
NG_012047.3:g.85998T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2296T>G MANE Select	ENSP00000260947.4:p.Cys766Gly
ENST00000421162.2:c.943T>G	ENSP00000392245.2:p.Cys315Gly
ENST00000613192.2:c.*359T>G	ENSP00000483275.2:n.*359T>G
ENST00000613374.5:c.886T>G	ENSP00000484464.1:p.Cys296Gly
ENST00000613706.5:c.1888T>G	ENSP00000484976.2:p.Cys630Gly
ENST00000617164.5:c.2239T>G	ENSP00000480470.1:p.Cys747Gly
ENST00000619009.5:c.757T>G	ENSP00000482293.1:p.Cys253Gly
ENST00000650978.1:c.3671T>G
ENST00000260947.8:c.2296T>G	ENSP00000260947.4:p.Cys766Gly
ENST00000432456.5:c.439T>G
ENST00000455743.5:c.*1916T>G	ENSP00000412186.1:n.*1916T>G
ENST00000471590.5:n.631T>G
ENST00000613192.1:c.466T>G	ENSP00000483275.1:p.Cys156Gly
ENST00000613374.4:c.886T>G	ENSP00000484464.1:p.Cys296Gly
ENST00000613706.4:c.943T>G	ENSP00000484976.1:p.Cys315Gly
ENST00000617164.4:c.2239T>G	ENSP00000480470.1:p.Cys747Gly
ENST00000619009.4:c.757T>G	ENSP00000482293.1:p.Cys253Gly
ENST00000620057.4:c.*962T>G	ENSP00000481988.1:n.*962T>G
NM_000465.3:c.2296T>G	NP_000456.2:p.Cys766Gly
NM_001282543.1:c.2239T>G	NP_001269472.1:p.Cys747Gly
NM_001282545.1:c.943T>G	NP_001269474.1:p.Cys315Gly
NM_001282548.1:c.886T>G	NP_001269477.1:p.Cys296Gly
NM_001282549.1:c.757T>G	NP_001269478.1:p.Cys253Gly
NR_104212.1:n.2289T>G
NR_104215.1:n.2232T>G
NR_104216.1:n.1488T>G
XM_011511567.1:c.2242T>G	XP_011509869.1:p.Cys748Gly
XM_017004613.1:c.2395T>G	XP_016860102.1:p.Cys799Gly
XR_002959322.1:n.2662T>G
NM_000465.4:c.2296T>G MANE Select	NP_000456.2:p.Cys766Gly
NM_001282543.2:c.2239T>G	NP_001269472.1:p.Cys747Gly
NM_001282545.2:c.943T>G	NP_001269474.1:p.Cys315Gly
NM_001282548.2:c.886T>G	NP_001269477.1:p.Cys296Gly
NM_001282549.2:c.757T>G	NP_001269478.1:p.Cys253Gly
NR_104212.2:n.2261T>G
NR_104215.2:n.2204T>G
NR_104216.2:n.1460T>G