Canonical Allele Identifier: CA350449902

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593449C>G (hg19) ; chr2:g.214728725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728725C>G , CM000664.2:g.214728725C>G	GRCh38
NC_000002.11:g.215593449C>G , CM000664.1:g.215593449C>G	GRCh37
NC_000002.10:g.215301694C>G	NCBI36
NG_012047.2:g.85980G>C
NG_012047.3:g.85987G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2285G>C MANE Select	ENSP00000260947.4:p.Trp762Ser
ENST00000421162.2:c.932G>C	ENSP00000392245.2:p.Trp311Ser
ENST00000613192.2:c.*348G>C	ENSP00000483275.2:n.*348G>C
ENST00000613374.5:c.875G>C	ENSP00000484464.1:p.Trp292Ser
ENST00000613706.5:c.1877G>C	ENSP00000484976.2:p.Trp626Ser
ENST00000617164.5:c.2228G>C	ENSP00000480470.1:p.Trp743Ser
ENST00000619009.5:c.746G>C	ENSP00000482293.1:p.Trp249Ser
ENST00000650978.1:c.3660G>C
ENST00000260947.8:c.2285G>C	ENSP00000260947.4:p.Trp762Ser
ENST00000432456.5:c.428G>C
ENST00000455743.5:c.*1905G>C	ENSP00000412186.1:n.*1905G>C
ENST00000471590.5:n.620G>C
ENST00000613192.1:c.455G>C	ENSP00000483275.1:p.Trp152Ser
ENST00000613374.4:c.875G>C	ENSP00000484464.1:p.Trp292Ser
ENST00000613706.4:c.932G>C	ENSP00000484976.1:p.Trp311Ser
ENST00000617164.4:c.2228G>C	ENSP00000480470.1:p.Trp743Ser
ENST00000619009.4:c.746G>C	ENSP00000482293.1:p.Trp249Ser
ENST00000620057.4:c.*951G>C	ENSP00000481988.1:n.*951G>C
NM_000465.3:c.2285G>C	NP_000456.2:p.Trp762Ser
NM_001282543.1:c.2228G>C	NP_001269472.1:p.Trp743Ser
NM_001282545.1:c.932G>C	NP_001269474.1:p.Trp311Ser
NM_001282548.1:c.875G>C	NP_001269477.1:p.Trp292Ser
NM_001282549.1:c.746G>C	NP_001269478.1:p.Trp249Ser
NR_104212.1:n.2278G>C
NR_104215.1:n.2221G>C
NR_104216.1:n.1477G>C
XM_011511567.1:c.2231G>C	XP_011509869.1:p.Trp744Ser
XM_017004613.1:c.2384G>C	XP_016860102.1:p.Trp795Ser
XR_002959322.1:n.2651G>C
NM_000465.4:c.2285G>C MANE Select	NP_000456.2:p.Trp762Ser
NM_001282543.2:c.2228G>C	NP_001269472.1:p.Trp743Ser
NM_001282545.2:c.932G>C	NP_001269474.1:p.Trp311Ser
NM_001282548.2:c.875G>C	NP_001269477.1:p.Trp292Ser
NM_001282549.2:c.746G>C	NP_001269478.1:p.Trp249Ser
NR_104212.2:n.2250G>C
NR_104215.2:n.2193G>C
NR_104216.2:n.1449G>C