Canonical Allele Identifier: CA350451203

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595195C>G (hg19) ; chr2:g.214730471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730471C>G , CM000664.2:g.214730471C>G	GRCh38
NC_000002.11:g.215595195C>G , CM000664.1:g.215595195C>G	GRCh37
NC_000002.10:g.215303440C>G	NCBI36
NG_012047.2:g.84234G>C
NG_012047.3:g.84241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1941G>C MANE Select	ENSP00000260947.4:p.Gln647His
ENST00000421162.2:c.588G>C	ENSP00000392245.2:p.Gln196His
ENST00000613192.2:c.*4G>C	ENSP00000483275.2:n.*4G>C
ENST00000613374.5:c.531G>C	ENSP00000484464.1:p.Gln177His
ENST00000613706.5:c.1533G>C	ENSP00000484976.2:p.Gln511His
ENST00000617164.5:c.1884G>C	ENSP00000480470.1:p.Gln628His
ENST00000619009.5:c.402G>C	ENSP00000482293.1:p.Gln134His
ENST00000650978.1:c.3316G>C
ENST00000260947.8:c.1941G>C	ENSP00000260947.4:p.Gln647His
ENST00000421162.1:c.588G>C	ENSP00000392245.1:p.Gln196His
ENST00000432456.5:c.38G>C
ENST00000455743.5:c.*1561G>C	ENSP00000412186.1:n.*1561G>C
ENST00000471590.5:n.276G>C
ENST00000613192.1:c.111G>C	ENSP00000483275.1:p.Gln37His
ENST00000613374.4:c.531G>C	ENSP00000484464.1:p.Gln177His
ENST00000613706.4:c.588G>C	ENSP00000484976.1:p.Gln196His
ENST00000617164.4:c.1884G>C	ENSP00000480470.1:p.Gln628His
ENST00000619009.4:c.402G>C	ENSP00000482293.1:p.Gln134His
ENST00000620057.4:c.*607G>C	ENSP00000481988.1:n.*607G>C
NM_000465.3:c.1941G>C	NP_000456.2:p.Gln647His
NM_001282543.1:c.1884G>C	NP_001269472.1:p.Gln628His
NM_001282545.1:c.588G>C	NP_001269474.1:p.Gln196His
NM_001282548.1:c.531G>C	NP_001269477.1:p.Gln177His
NM_001282549.1:c.402G>C	NP_001269478.1:p.Gln134His
NR_104212.1:n.1934G>C
NR_104215.1:n.1877G>C
NR_104216.1:n.1133G>C
XM_011511567.1:c.1887G>C	XP_011509869.1:p.Gln629His
XM_017004613.1:c.2040G>C	XP_016860102.1:p.Gln680His
XR_002959322.1:n.2131G>C
NM_000465.4:c.1941G>C MANE Select	NP_000456.2:p.Gln647His
NM_001282543.2:c.1884G>C	NP_001269472.1:p.Gln628His
NM_001282545.2:c.588G>C	NP_001269474.1:p.Gln196His
NM_001282548.2:c.531G>C	NP_001269477.1:p.Gln177His
NM_001282549.2:c.402G>C	NP_001269478.1:p.Gln134His
NR_104212.2:n.1906G>C
NR_104215.2:n.1849G>C
NR_104216.2:n.1105G>C