Canonical Allele Identifier: CA350450049

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593497T>G (hg19) ; chr2:g.214728773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728773T>G , CM000664.2:g.214728773T>G	GRCh38
NC_000002.11:g.215593497T>G , CM000664.1:g.215593497T>G	GRCh37
NC_000002.10:g.215301742T>G	NCBI36
NG_012047.2:g.85932A>C
NG_012047.3:g.85939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2237A>C MANE Select	ENSP00000260947.4:p.His746Pro
ENST00000421162.2:c.884A>C	ENSP00000392245.2:p.His295Pro
ENST00000613192.2:c.*300A>C	ENSP00000483275.2:n.*300A>C
ENST00000613374.5:c.827A>C	ENSP00000484464.1:p.His276Pro
ENST00000613706.5:c.1829A>C	ENSP00000484976.2:p.His610Pro
ENST00000617164.5:c.2180A>C	ENSP00000480470.1:p.His727Pro
ENST00000619009.5:c.698A>C	ENSP00000482293.1:p.His233Pro
ENST00000650978.1:c.3612A>C
ENST00000260947.8:c.2237A>C	ENSP00000260947.4:p.His746Pro
ENST00000432456.5:c.380A>C
ENST00000455743.5:c.*1857A>C	ENSP00000412186.1:n.*1857A>C
ENST00000471590.5:n.572A>C
ENST00000613192.1:c.407A>C	ENSP00000483275.1:p.His136Pro
ENST00000613374.4:c.827A>C	ENSP00000484464.1:p.His276Pro
ENST00000613706.4:c.884A>C	ENSP00000484976.1:p.His295Pro
ENST00000617164.4:c.2180A>C	ENSP00000480470.1:p.His727Pro
ENST00000619009.4:c.698A>C	ENSP00000482293.1:p.His233Pro
ENST00000620057.4:c.*903A>C	ENSP00000481988.1:n.*903A>C
NM_000465.3:c.2237A>C	NP_000456.2:p.His746Pro
NM_001282543.1:c.2180A>C	NP_001269472.1:p.His727Pro
NM_001282545.1:c.884A>C	NP_001269474.1:p.His295Pro
NM_001282548.1:c.827A>C	NP_001269477.1:p.His276Pro
NM_001282549.1:c.698A>C	NP_001269478.1:p.His233Pro
NR_104212.1:n.2230A>C
NR_104215.1:n.2173A>C
NR_104216.1:n.1429A>C
XM_011511567.1:c.2183A>C	XP_011509869.1:p.His728Pro
XM_017004613.1:c.2336A>C	XP_016860102.1:p.His779Pro
XR_002959322.1:n.2603A>C
NM_000465.4:c.2237A>C MANE Select	NP_000456.2:p.His746Pro
NM_001282543.2:c.2180A>C	NP_001269472.1:p.His727Pro
NM_001282545.2:c.884A>C	NP_001269474.1:p.His295Pro
NM_001282548.2:c.827A>C	NP_001269477.1:p.His276Pro
NM_001282549.2:c.698A>C	NP_001269478.1:p.His233Pro
NR_104212.2:n.2202A>C
NR_104215.2:n.2145A>C
NR_104216.2:n.1401A>C