Canonical Allele Identifier: CA350449832

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593439G>T (hg19) ; chr2:g.214728715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728715G>T , CM000664.2:g.214728715G>T	GRCh38
NC_000002.11:g.215593439G>T , CM000664.1:g.215593439G>T	GRCh37
NC_000002.10:g.215301684G>T	NCBI36
NG_012047.2:g.85990C>A
NG_012047.3:g.85997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2295C>A MANE Select	ENSP00000260947.4:p.Asp765Glu
ENST00000421162.2:c.942C>A	ENSP00000392245.2:p.Asp314Glu
ENST00000613192.2:c.*358C>A	ENSP00000483275.2:n.*358C>A
ENST00000613374.5:c.885C>A	ENSP00000484464.1:p.Asp295Glu
ENST00000613706.5:c.1887C>A	ENSP00000484976.2:p.Asp629Glu
ENST00000617164.5:c.2238C>A	ENSP00000480470.1:p.Asp746Glu
ENST00000619009.5:c.756C>A	ENSP00000482293.1:p.Asp252Glu
ENST00000650978.1:c.3670C>A
ENST00000260947.8:c.2295C>A	ENSP00000260947.4:p.Asp765Glu
ENST00000432456.5:c.438C>A
ENST00000455743.5:c.*1915C>A	ENSP00000412186.1:n.*1915C>A
ENST00000471590.5:n.630C>A
ENST00000613192.1:c.465C>A	ENSP00000483275.1:p.Asp155Glu
ENST00000613374.4:c.885C>A	ENSP00000484464.1:p.Asp295Glu
ENST00000613706.4:c.942C>A	ENSP00000484976.1:p.Asp314Glu
ENST00000617164.4:c.2238C>A	ENSP00000480470.1:p.Asp746Glu
ENST00000619009.4:c.756C>A	ENSP00000482293.1:p.Asp252Glu
ENST00000620057.4:c.*961C>A	ENSP00000481988.1:n.*961C>A
NM_000465.3:c.2295C>A	NP_000456.2:p.Asp765Glu
NM_001282543.1:c.2238C>A	NP_001269472.1:p.Asp746Glu
NM_001282545.1:c.942C>A	NP_001269474.1:p.Asp314Glu
NM_001282548.1:c.885C>A	NP_001269477.1:p.Asp295Glu
NM_001282549.1:c.756C>A	NP_001269478.1:p.Asp252Glu
NR_104212.1:n.2288C>A
NR_104215.1:n.2231C>A
NR_104216.1:n.1487C>A
XM_011511567.1:c.2241C>A	XP_011509869.1:p.Asp747Glu
XM_017004613.1:c.2394C>A	XP_016860102.1:p.Asp798Glu
XR_002959322.1:n.2661C>A
NM_000465.4:c.2295C>A MANE Select	NP_000456.2:p.Asp765Glu
NM_001282543.2:c.2238C>A	NP_001269472.1:p.Asp746Glu
NM_001282545.2:c.942C>A	NP_001269474.1:p.Asp314Glu
NM_001282548.2:c.885C>A	NP_001269477.1:p.Asp295Glu
NM_001282549.2:c.756C>A	NP_001269478.1:p.Asp252Glu
NR_104212.2:n.2260C>A
NR_104215.2:n.2203C>A
NR_104216.2:n.1459C>A