Canonical Allele Identifier: CA350449834

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593440T>A (hg19) ; chr2:g.214728716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728716T>A , CM000664.2:g.214728716T>A	GRCh38
NC_000002.11:g.215593440T>A , CM000664.1:g.215593440T>A	GRCh37
NC_000002.10:g.215301685T>A	NCBI36
NG_012047.2:g.85989A>T
NG_012047.3:g.85996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2294A>T MANE Select	ENSP00000260947.4:p.Asp765Val
ENST00000421162.2:c.941A>T	ENSP00000392245.2:p.Asp314Val
ENST00000613192.2:c.*357A>T	ENSP00000483275.2:n.*357A>T
ENST00000613374.5:c.884A>T	ENSP00000484464.1:p.Asp295Val
ENST00000613706.5:c.1886A>T	ENSP00000484976.2:p.Asp629Val
ENST00000617164.5:c.2237A>T	ENSP00000480470.1:p.Asp746Val
ENST00000619009.5:c.755A>T	ENSP00000482293.1:p.Asp252Val
ENST00000650978.1:c.3669A>T
ENST00000260947.8:c.2294A>T	ENSP00000260947.4:p.Asp765Val
ENST00000432456.5:c.437A>T
ENST00000455743.5:c.*1914A>T	ENSP00000412186.1:n.*1914A>T
ENST00000471590.5:n.629A>T
ENST00000613192.1:c.464A>T	ENSP00000483275.1:p.Asp155Val
ENST00000613374.4:c.884A>T	ENSP00000484464.1:p.Asp295Val
ENST00000613706.4:c.941A>T	ENSP00000484976.1:p.Asp314Val
ENST00000617164.4:c.2237A>T	ENSP00000480470.1:p.Asp746Val
ENST00000619009.4:c.755A>T	ENSP00000482293.1:p.Asp252Val
ENST00000620057.4:c.*960A>T	ENSP00000481988.1:n.*960A>T
NM_000465.3:c.2294A>T	NP_000456.2:p.Asp765Val
NM_001282543.1:c.2237A>T	NP_001269472.1:p.Asp746Val
NM_001282545.1:c.941A>T	NP_001269474.1:p.Asp314Val
NM_001282548.1:c.884A>T	NP_001269477.1:p.Asp295Val
NM_001282549.1:c.755A>T	NP_001269478.1:p.Asp252Val
NR_104212.1:n.2287A>T
NR_104215.1:n.2230A>T
NR_104216.1:n.1486A>T
XM_011511567.1:c.2240A>T	XP_011509869.1:p.Asp747Val
XM_017004613.1:c.2393A>T	XP_016860102.1:p.Asp798Val
XR_002959322.1:n.2660A>T
NM_000465.4:c.2294A>T MANE Select	NP_000456.2:p.Asp765Val
NM_001282543.2:c.2237A>T	NP_001269472.1:p.Asp746Val
NM_001282545.2:c.941A>T	NP_001269474.1:p.Asp314Val
NM_001282548.2:c.884A>T	NP_001269477.1:p.Asp295Val
NM_001282549.2:c.755A>T	NP_001269478.1:p.Asp252Val
NR_104212.2:n.2259A>T
NR_104215.2:n.2202A>T
NR_104216.2:n.1458A>T