Canonical Allele Identifier: CA350451313

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595223G>T (hg19) ; chr2:g.214730499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730499G>T , CM000664.2:g.214730499G>T	GRCh38
NC_000002.11:g.215595223G>T , CM000664.1:g.215595223G>T	GRCh37
NC_000002.10:g.215303468G>T	NCBI36
NG_012047.2:g.84206C>A
NG_012047.3:g.84213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1913C>A MANE Select	ENSP00000260947.4:p.Ala638Glu
ENST00000421162.2:c.560C>A	ENSP00000392245.2:p.Ala187Glu
ENST00000613192.2:c.168C>A	ENSP00000483275.2:p.Ser56Arg
ENST00000613374.5:c.503C>A	ENSP00000484464.1:p.Ala168Glu
ENST00000613706.5:c.1505C>A	ENSP00000484976.2:p.Ala502Glu
ENST00000617164.5:c.1856C>A	ENSP00000480470.1:p.Ala619Glu
ENST00000619009.5:c.374C>A	ENSP00000482293.1:p.Ala125Glu
ENST00000650978.1:c.3288C>A
ENST00000260947.8:c.1913C>A	ENSP00000260947.4:p.Ala638Glu
ENST00000421162.1:c.560C>A	ENSP00000392245.1:p.Ala187Glu
ENST00000432456.5:c.10C>A
ENST00000455743.5:c.*1533C>A	ENSP00000412186.1:n.*1533C>A
ENST00000471590.5:n.248C>A
ENST00000613192.1:c.83C>A	ENSP00000483275.1:p.Ala28Glu
ENST00000613374.4:c.503C>A	ENSP00000484464.1:p.Ala168Glu
ENST00000613706.4:c.560C>A	ENSP00000484976.1:p.Ala187Glu
ENST00000617164.4:c.1856C>A	ENSP00000480470.1:p.Ala619Glu
ENST00000619009.4:c.374C>A	ENSP00000482293.1:p.Ala125Glu
ENST00000620057.4:c.*579C>A	ENSP00000481988.1:n.*579C>A
NM_000465.3:c.1913C>A	NP_000456.2:p.Ala638Glu
NM_001282543.1:c.1856C>A	NP_001269472.1:p.Ala619Glu
NM_001282545.1:c.560C>A	NP_001269474.1:p.Ala187Glu
NM_001282548.1:c.503C>A	NP_001269477.1:p.Ala168Glu
NM_001282549.1:c.374C>A	NP_001269478.1:p.Ala125Glu
NR_104212.1:n.1906C>A
NR_104215.1:n.1849C>A
NR_104216.1:n.1105C>A
XM_011511567.1:c.1859C>A	XP_011509869.1:p.Ala620Glu
XM_017004613.1:c.2012C>A	XP_016860102.1:p.Ala671Glu
XR_002959322.1:n.2103C>A
NM_000465.4:c.1913C>A MANE Select	NP_000456.2:p.Ala638Glu
NM_001282543.2:c.1856C>A	NP_001269472.1:p.Ala619Glu
NM_001282545.2:c.560C>A	NP_001269474.1:p.Ala187Glu
NM_001282548.2:c.503C>A	NP_001269477.1:p.Ala168Glu
NM_001282549.2:c.374C>A	NP_001269478.1:p.Ala125Glu
NR_104212.2:n.1878C>A
NR_104215.2:n.1821C>A
NR_104216.2:n.1077C>A