Canonical Allele Identifier: CA350452046

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2131855
• ClinVar RCV Id: RCV003036459
• MyVariant Identifiers: chr2:g.215609792T>A (hg19) ; chr2:g.214745068T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745068T>A , CM000664.2:g.214745068T>A	GRCh38
NC_000002.11:g.215609792T>A , CM000664.1:g.215609792T>A	GRCh37
NC_000002.10:g.215318037T>A	NCBI36
NG_012047.2:g.69637A>T
NG_012047.3:g.69644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1902A>T MANE Select	ENSP00000260947.4:p.Glu634Asp
ENST00000421162.2:c.549A>T	ENSP00000392245.2:p.Glu183Asp
ENST00000613192.2:c.159-14560A>T	ENSP00000483275.2:n.159-14560A>T
ENST00000613374.5:c.492A>T	ENSP00000484464.1:p.Glu164Asp
ENST00000613706.5:c.1494A>T	ENSP00000484976.2:p.Glu498Asp
ENST00000617164.5:c.1845A>T	ENSP00000480470.1:p.Glu615Asp
ENST00000619009.5:c.365-14560A>T	ENSP00000482293.1:n.365-14560A>T
ENST00000650978.1:c.3277A>T
ENST00000260947.8:c.1902A>T	ENSP00000260947.4:p.Glu634Asp
ENST00000421162.1:c.549A>T	ENSP00000392245.1:p.Glu183Asp
ENST00000455743.5:c.*1522A>T	ENSP00000412186.1:n.*1522A>T
ENST00000613192.1:c.74-14560A>T	ENSP00000483275.1:n.74-14560A>T
ENST00000613374.4:c.492A>T	ENSP00000484464.1:p.Glu164Asp
ENST00000613706.4:c.549A>T	ENSP00000484976.1:p.Glu183Asp
ENST00000617164.4:c.1845A>T	ENSP00000480470.1:p.Glu615Asp
ENST00000619009.4:c.365-14560A>T	ENSP00000482293.1:n.365-14560A>T
ENST00000620057.4:c.*568A>T	ENSP00000481988.1:n.*568A>T
NM_000465.3:c.1902A>T	NP_000456.2:p.Glu634Asp
NM_001282543.1:c.1845A>T	NP_001269472.1:p.Glu615Asp
NM_001282545.1:c.549A>T	NP_001269474.1:p.Glu183Asp
NM_001282548.1:c.492A>T	NP_001269477.1:p.Glu164Asp
NM_001282549.1:c.365-14560A>T	NP_001269478.1:n.365-14560A>T
NR_104212.1:n.1895A>T
NR_104215.1:n.1838A>T
NR_104216.1:n.1094A>T
XM_011511567.1:c.1848A>T	XP_011509869.1:p.Glu616Asp
XM_011511568.1:c.1902A>T	XP_011509870.1:p.Glu634Asp
XM_017004613.1:c.2001A>T	XP_016860102.1:p.Glu667Asp
XM_017004614.1:c.2001A>T	XP_016860103.1:p.Glu667Asp
XR_002959322.1:n.2092A>T
NM_000465.4:c.1902A>T MANE Select	NP_000456.2:p.Glu634Asp
NM_001282543.2:c.1845A>T	NP_001269472.1:p.Glu615Asp
NM_001282545.2:c.549A>T	NP_001269474.1:p.Glu183Asp
NM_001282548.2:c.492A>T	NP_001269477.1:p.Glu164Asp
NM_001282549.2:c.365-14560A>T	NP_001269478.1:n.365-14560A>T
NR_104212.2:n.1867A>T
NR_104215.2:n.1810A>T
NR_104216.2:n.1066A>T