Canonical Allele Identifier: CA350451215

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595198T>A (hg19) ; chr2:g.214730474T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730474T>A , CM000664.2:g.214730474T>A	GRCh38
NC_000002.11:g.215595198T>A , CM000664.1:g.215595198T>A	GRCh37
NC_000002.10:g.215303443T>A	NCBI36
NG_012047.2:g.84231A>T
NG_012047.3:g.84238A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1938A>T MANE Select	ENSP00000260947.4:p.Glu646Asp
ENST00000421162.2:c.585A>T	ENSP00000392245.2:p.Glu195Asp
ENST00000613192.2:c.*1A>T	ENSP00000483275.2:n.*1A>T
ENST00000613374.5:c.528A>T	ENSP00000484464.1:p.Glu176Asp
ENST00000613706.5:c.1530A>T	ENSP00000484976.2:p.Glu510Asp
ENST00000617164.5:c.1881A>T	ENSP00000480470.1:p.Glu627Asp
ENST00000619009.5:c.399A>T	ENSP00000482293.1:p.Glu133Asp
ENST00000650978.1:c.3313A>T
ENST00000260947.8:c.1938A>T	ENSP00000260947.4:p.Glu646Asp
ENST00000421162.1:c.585A>T	ENSP00000392245.1:p.Glu195Asp
ENST00000432456.5:c.35A>T
ENST00000455743.5:c.*1558A>T	ENSP00000412186.1:n.*1558A>T
ENST00000471590.5:n.273A>T
ENST00000613192.1:c.108A>T	ENSP00000483275.1:p.Glu36Asp
ENST00000613374.4:c.528A>T	ENSP00000484464.1:p.Glu176Asp
ENST00000613706.4:c.585A>T	ENSP00000484976.1:p.Glu195Asp
ENST00000617164.4:c.1881A>T	ENSP00000480470.1:p.Glu627Asp
ENST00000619009.4:c.399A>T	ENSP00000482293.1:p.Glu133Asp
ENST00000620057.4:c.*604A>T	ENSP00000481988.1:n.*604A>T
NM_000465.3:c.1938A>T	NP_000456.2:p.Glu646Asp
NM_001282543.1:c.1881A>T	NP_001269472.1:p.Glu627Asp
NM_001282545.1:c.585A>T	NP_001269474.1:p.Glu195Asp
NM_001282548.1:c.528A>T	NP_001269477.1:p.Glu176Asp
NM_001282549.1:c.399A>T	NP_001269478.1:p.Glu133Asp
NR_104212.1:n.1931A>T
NR_104215.1:n.1874A>T
NR_104216.1:n.1130A>T
XM_011511567.1:c.1884A>T	XP_011509869.1:p.Glu628Asp
XM_017004613.1:c.2037A>T	XP_016860102.1:p.Glu679Asp
XR_002959322.1:n.2128A>T
NM_000465.4:c.1938A>T MANE Select	NP_000456.2:p.Glu646Asp
NM_001282543.2:c.1881A>T	NP_001269472.1:p.Glu627Asp
NM_001282545.2:c.585A>T	NP_001269474.1:p.Glu195Asp
NM_001282548.2:c.528A>T	NP_001269477.1:p.Glu176Asp
NM_001282549.2:c.399A>T	NP_001269478.1:p.Glu133Asp
NR_104212.2:n.1903A>T
NR_104215.2:n.1846A>T
NR_104216.2:n.1102A>T