Canonical Allele Identifier: CA350451116

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595152G>T (hg19) ; chr2:g.214730428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730428G>T , CM000664.2:g.214730428G>T	GRCh38
NC_000002.11:g.215595152G>T , CM000664.1:g.215595152G>T	GRCh37
NC_000002.10:g.215303397G>T	NCBI36
NG_012047.2:g.84277C>A
NG_012047.3:g.84284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1984C>A MANE Select	ENSP00000260947.4:p.Leu662Ile
ENST00000421162.2:c.631C>A	ENSP00000392245.2:p.Leu211Ile
ENST00000613192.2:c.*47C>A	ENSP00000483275.2:n.*47C>A
ENST00000613374.5:c.574C>A	ENSP00000484464.1:p.Leu192Ile
ENST00000613706.5:c.1576C>A	ENSP00000484976.2:p.Leu526Ile
ENST00000617164.5:c.1927C>A	ENSP00000480470.1:p.Leu643Ile
ENST00000619009.5:c.445C>A	ENSP00000482293.1:p.Leu149Ile
ENST00000650978.1:c.3359C>A
ENST00000260947.8:c.1984C>A	ENSP00000260947.4:p.Leu662Ile
ENST00000421162.1:c.631C>A	ENSP00000392245.1:p.Leu211Ile
ENST00000432456.5:c.81C>A
ENST00000455743.5:c.*1604C>A	ENSP00000412186.1:n.*1604C>A
ENST00000471590.5:n.319C>A
ENST00000613192.1:c.154C>A	ENSP00000483275.1:p.Leu52Ile
ENST00000613374.4:c.574C>A	ENSP00000484464.1:p.Leu192Ile
ENST00000613706.4:c.631C>A	ENSP00000484976.1:p.Leu211Ile
ENST00000617164.4:c.1927C>A	ENSP00000480470.1:p.Leu643Ile
ENST00000619009.4:c.445C>A	ENSP00000482293.1:p.Leu149Ile
ENST00000620057.4:c.*650C>A	ENSP00000481988.1:n.*650C>A
NM_000465.3:c.1984C>A	NP_000456.2:p.Leu662Ile
NM_001282543.1:c.1927C>A	NP_001269472.1:p.Leu643Ile
NM_001282545.1:c.631C>A	NP_001269474.1:p.Leu211Ile
NM_001282548.1:c.574C>A	NP_001269477.1:p.Leu192Ile
NM_001282549.1:c.445C>A	NP_001269478.1:p.Leu149Ile
NR_104212.1:n.1977C>A
NR_104215.1:n.1920C>A
NR_104216.1:n.1176C>A
XM_011511567.1:c.1930C>A	XP_011509869.1:p.Leu644Ile
XM_017004613.1:c.2083C>A	XP_016860102.1:p.Leu695Ile
XR_002959322.1:n.2174C>A
NM_000465.4:c.1984C>A MANE Select	NP_000456.2:p.Leu662Ile
NM_001282543.2:c.1927C>A	NP_001269472.1:p.Leu643Ile
NM_001282545.2:c.631C>A	NP_001269474.1:p.Leu211Ile
NM_001282548.2:c.574C>A	NP_001269477.1:p.Leu192Ile
NM_001282549.2:c.445C>A	NP_001269478.1:p.Leu149Ile
NR_104212.2:n.1949C>A
NR_104215.2:n.1892C>A
NR_104216.2:n.1148C>A