Canonical Allele Identifier: CA350449812

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593436A>C (hg19) ; chr2:g.214728712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728712A>C , CM000664.2:g.214728712A>C	GRCh38
NC_000002.11:g.215593436A>C , CM000664.1:g.215593436A>C	GRCh37
NC_000002.10:g.215301681A>C	NCBI36
NG_012047.2:g.85993T>G
NG_012047.3:g.86000T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2298T>G MANE Select	ENSP00000260947.4:p.Cys766Trp
ENST00000421162.2:c.945T>G	ENSP00000392245.2:p.Cys315Trp
ENST00000613192.2:c.*361T>G	ENSP00000483275.2:n.*361T>G
ENST00000613374.5:c.888T>G	ENSP00000484464.1:p.Cys296Trp
ENST00000613706.5:c.1890T>G	ENSP00000484976.2:p.Cys630Trp
ENST00000617164.5:c.2241T>G	ENSP00000480470.1:p.Cys747Trp
ENST00000619009.5:c.759T>G	ENSP00000482293.1:p.Cys253Trp
ENST00000650978.1:c.3673T>G
ENST00000260947.8:c.2298T>G	ENSP00000260947.4:p.Cys766Trp
ENST00000432456.5:c.441T>G
ENST00000455743.5:c.*1918T>G	ENSP00000412186.1:n.*1918T>G
ENST00000471590.5:n.633T>G
ENST00000613192.1:c.468T>G	ENSP00000483275.1:p.Cys156Trp
ENST00000613374.4:c.888T>G	ENSP00000484464.1:p.Cys296Trp
ENST00000613706.4:c.945T>G	ENSP00000484976.1:p.Cys315Trp
ENST00000617164.4:c.2241T>G	ENSP00000480470.1:p.Cys747Trp
ENST00000619009.4:c.759T>G	ENSP00000482293.1:p.Cys253Trp
ENST00000620057.4:c.*964T>G	ENSP00000481988.1:n.*964T>G
NM_000465.3:c.2298T>G	NP_000456.2:p.Cys766Trp
NM_001282543.1:c.2241T>G	NP_001269472.1:p.Cys747Trp
NM_001282545.1:c.945T>G	NP_001269474.1:p.Cys315Trp
NM_001282548.1:c.888T>G	NP_001269477.1:p.Cys296Trp
NM_001282549.1:c.759T>G	NP_001269478.1:p.Cys253Trp
NR_104212.1:n.2291T>G
NR_104215.1:n.2234T>G
NR_104216.1:n.1490T>G
XM_011511567.1:c.2244T>G	XP_011509869.1:p.Cys748Trp
XM_017004613.1:c.2397T>G	XP_016860102.1:p.Cys799Trp
XR_002959322.1:n.2664T>G
NM_000465.4:c.2298T>G MANE Select	NP_000456.2:p.Cys766Trp
NM_001282543.2:c.2241T>G	NP_001269472.1:p.Cys747Trp
NM_001282545.2:c.945T>G	NP_001269474.1:p.Cys315Trp
NM_001282548.2:c.888T>G	NP_001269477.1:p.Cys296Trp
NM_001282549.2:c.759T>G	NP_001269478.1:p.Cys253Trp
NR_104212.2:n.2263T>G
NR_104215.2:n.2206T>G
NR_104216.2:n.1462T>G