Canonical Allele Identifier: CA350451149

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595172T>A (hg19) ; chr2:g.214730448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730448T>A , CM000664.2:g.214730448T>A	GRCh38
NC_000002.11:g.215595172T>A , CM000664.1:g.215595172T>A	GRCh37
NC_000002.10:g.215303417T>A	NCBI36
NG_012047.2:g.84257A>T
NG_012047.3:g.84264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1964A>T MANE Select	ENSP00000260947.4:p.Glu655Val
ENST00000421162.2:c.611A>T	ENSP00000392245.2:p.Glu204Val
ENST00000613192.2:c.*27A>T	ENSP00000483275.2:n.*27A>T
ENST00000613374.5:c.554A>T	ENSP00000484464.1:p.Glu185Val
ENST00000613706.5:c.1556A>T	ENSP00000484976.2:p.Glu519Val
ENST00000617164.5:c.1907A>T	ENSP00000480470.1:p.Glu636Val
ENST00000619009.5:c.425A>T	ENSP00000482293.1:p.Glu142Val
ENST00000650978.1:c.3339A>T
ENST00000260947.8:c.1964A>T	ENSP00000260947.4:p.Glu655Val
ENST00000421162.1:c.611A>T	ENSP00000392245.1:p.Glu204Val
ENST00000432456.5:c.61A>T
ENST00000455743.5:c.*1584A>T	ENSP00000412186.1:n.*1584A>T
ENST00000471590.5:n.299A>T
ENST00000613192.1:c.134A>T	ENSP00000483275.1:p.Glu45Val
ENST00000613374.4:c.554A>T	ENSP00000484464.1:p.Glu185Val
ENST00000613706.4:c.611A>T	ENSP00000484976.1:p.Glu204Val
ENST00000617164.4:c.1907A>T	ENSP00000480470.1:p.Glu636Val
ENST00000619009.4:c.425A>T	ENSP00000482293.1:p.Glu142Val
ENST00000620057.4:c.*630A>T	ENSP00000481988.1:n.*630A>T
NM_000465.3:c.1964A>T	NP_000456.2:p.Glu655Val
NM_001282543.1:c.1907A>T	NP_001269472.1:p.Glu636Val
NM_001282545.1:c.611A>T	NP_001269474.1:p.Glu204Val
NM_001282548.1:c.554A>T	NP_001269477.1:p.Glu185Val
NM_001282549.1:c.425A>T	NP_001269478.1:p.Glu142Val
NR_104212.1:n.1957A>T
NR_104215.1:n.1900A>T
NR_104216.1:n.1156A>T
XM_011511567.1:c.1910A>T	XP_011509869.1:p.Glu637Val
XM_017004613.1:c.2063A>T	XP_016860102.1:p.Glu688Val
XR_002959322.1:n.2154A>T
NM_000465.4:c.1964A>T MANE Select	NP_000456.2:p.Glu655Val
NM_001282543.2:c.1907A>T	NP_001269472.1:p.Glu636Val
NM_001282545.2:c.611A>T	NP_001269474.1:p.Glu204Val
NM_001282548.2:c.554A>T	NP_001269477.1:p.Glu185Val
NM_001282549.2:c.425A>T	NP_001269478.1:p.Glu142Val
NR_104212.2:n.1929A>T
NR_104215.2:n.1872A>T
NR_104216.2:n.1128A>T