Canonical Allele Identifier: CA350451153

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595173C>T (hg19) ; chr2:g.214730449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730449C>T , CM000664.2:g.214730449C>T	GRCh38
NC_000002.11:g.215595173C>T , CM000664.1:g.215595173C>T	GRCh37
NC_000002.10:g.215303418C>T	NCBI36
NG_012047.2:g.84256G>A
NG_012047.3:g.84263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1963G>A MANE Select	ENSP00000260947.4:p.Glu655Lys
ENST00000421162.2:c.610G>A	ENSP00000392245.2:p.Glu204Lys
ENST00000613192.2:c.*26G>A	ENSP00000483275.2:n.*26G>A
ENST00000613374.5:c.553G>A	ENSP00000484464.1:p.Glu185Lys
ENST00000613706.5:c.1555G>A	ENSP00000484976.2:p.Glu519Lys
ENST00000617164.5:c.1906G>A	ENSP00000480470.1:p.Glu636Lys
ENST00000619009.5:c.424G>A	ENSP00000482293.1:p.Glu142Lys
ENST00000650978.1:c.3338G>A
ENST00000260947.8:c.1963G>A	ENSP00000260947.4:p.Glu655Lys
ENST00000421162.1:c.610G>A	ENSP00000392245.1:p.Glu204Lys
ENST00000432456.5:c.60G>A
ENST00000455743.5:c.*1583G>A	ENSP00000412186.1:n.*1583G>A
ENST00000471590.5:n.298G>A
ENST00000613192.1:c.133G>A	ENSP00000483275.1:p.Glu45Lys
ENST00000613374.4:c.553G>A	ENSP00000484464.1:p.Glu185Lys
ENST00000613706.4:c.610G>A	ENSP00000484976.1:p.Glu204Lys
ENST00000617164.4:c.1906G>A	ENSP00000480470.1:p.Glu636Lys
ENST00000619009.4:c.424G>A	ENSP00000482293.1:p.Glu142Lys
ENST00000620057.4:c.*629G>A	ENSP00000481988.1:n.*629G>A
NM_000465.3:c.1963G>A	NP_000456.2:p.Glu655Lys
NM_001282543.1:c.1906G>A	NP_001269472.1:p.Glu636Lys
NM_001282545.1:c.610G>A	NP_001269474.1:p.Glu204Lys
NM_001282548.1:c.553G>A	NP_001269477.1:p.Glu185Lys
NM_001282549.1:c.424G>A	NP_001269478.1:p.Glu142Lys
NR_104212.1:n.1956G>A
NR_104215.1:n.1899G>A
NR_104216.1:n.1155G>A
XM_011511567.1:c.1909G>A	XP_011509869.1:p.Glu637Lys
XM_017004613.1:c.2062G>A	XP_016860102.1:p.Glu688Lys
XR_002959322.1:n.2153G>A
NM_000465.4:c.1963G>A MANE Select	NP_000456.2:p.Glu655Lys
NM_001282543.2:c.1906G>A	NP_001269472.1:p.Glu636Lys
NM_001282545.2:c.610G>A	NP_001269474.1:p.Glu204Lys
NM_001282548.2:c.553G>A	NP_001269477.1:p.Glu185Lys
NM_001282549.2:c.424G>A	NP_001269478.1:p.Glu142Lys
NR_104212.2:n.1928G>A
NR_104215.2:n.1871G>A
NR_104216.2:n.1127G>A