Canonical Allele Identifier: CA350450045

Gene: BARD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2237A>T MANE Select	ENSP00000260947.4:p.His746Leu
ENST00000421162.2:c.884A>T	ENSP00000392245.2:p.His295Leu
ENST00000613192.2:c.*300A>T	ENSP00000483275.2:n.*300A>T
ENST00000613374.5:c.827A>T	ENSP00000484464.1:p.His276Leu
ENST00000613706.5:c.1829A>T	ENSP00000484976.2:p.His610Leu
ENST00000617164.5:c.2180A>T	ENSP00000480470.1:p.His727Leu
ENST00000619009.5:c.698A>T	ENSP00000482293.1:p.His233Leu
ENST00000650978.1:c.3612A>T
ENST00000260947.8:c.2237A>T	ENSP00000260947.4:p.His746Leu
ENST00000432456.5:c.380A>T
ENST00000455743.5:c.*1857A>T	ENSP00000412186.1:n.*1857A>T
ENST00000471590.5:n.572A>T
ENST00000613192.1:c.407A>T	ENSP00000483275.1:p.His136Leu
ENST00000613374.4:c.827A>T	ENSP00000484464.1:p.His276Leu
ENST00000613706.4:c.884A>T	ENSP00000484976.1:p.His295Leu
ENST00000617164.4:c.2180A>T	ENSP00000480470.1:p.His727Leu
ENST00000619009.4:c.698A>T	ENSP00000482293.1:p.His233Leu
ENST00000620057.4:c.*903A>T	ENSP00000481988.1:n.*903A>T
NM_000465.3:c.2237A>T	NP_000456.2:p.His746Leu
NM_001282543.1:c.2180A>T	NP_001269472.1:p.His727Leu
NM_001282545.1:c.884A>T	NP_001269474.1:p.His295Leu
NM_001282548.1:c.827A>T	NP_001269477.1:p.His276Leu
NM_001282549.1:c.698A>T	NP_001269478.1:p.His233Leu
NR_104212.1:n.2230A>T
NR_104215.1:n.2173A>T
NR_104216.1:n.1429A>T
XM_011511567.1:c.2183A>T	XP_011509869.1:p.His728Leu
XM_017004613.1:c.2336A>T	XP_016860102.1:p.His779Leu
XR_002959322.1:n.2603A>T
NM_000465.4:c.2237A>T MANE Select	NP_000456.2:p.His746Leu
NM_001282543.2:c.2180A>T	NP_001269472.1:p.His727Leu
NM_001282545.2:c.884A>T	NP_001269474.1:p.His295Leu
NM_001282548.2:c.827A>T	NP_001269477.1:p.His276Leu
NM_001282549.2:c.698A>T	NP_001269478.1:p.His233Leu
NR_104212.2:n.2202A>T
NR_104215.2:n.2145A>T
NR_104216.2:n.1401A>T