Canonical Allele Identifier: CA350456620

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645958T>A (hg19) ; chr2:g.214781234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781234T>A , CM000664.2:g.214781234T>A	GRCh38
NC_000002.11:g.215645958T>A , CM000664.1:g.215645958T>A	GRCh37
NC_000002.10:g.215354203T>A	NCBI36
NG_012047.2:g.33471A>T
NG_012047.3:g.33478A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.640A>T MANE Select	ENSP00000260947.4:p.Ile214Phe
ENST00000421162.2:c.215+15827A>T	ENSP00000392245.2:n.215+15827A>T
ENST00000613192.2:c.158+28178A>T	ENSP00000483275.2:n.158+28178A>T
ENST00000613374.5:c.158+28178A>T	ENSP00000484464.1:n.158+28178A>T
ENST00000613706.5:c.640A>T	ENSP00000484976.2:p.Ile214Phe
ENST00000617164.5:c.583A>T	ENSP00000480470.1:p.Ile195Phe
ENST00000619009.5:c.364+11063A>T	ENSP00000482293.1:n.364+11063A>T
ENST00000650978.1:c.482A>T
ENST00000260947.8:c.640A>T	ENSP00000260947.4:p.Ile214Phe
ENST00000421162.1:c.215+15827A>T	ENSP00000392245.1:n.215+15827A>T
ENST00000455743.5:c.*260A>T	ENSP00000412186.1:n.*260A>T
ENST00000471787.1:n.535A>T
ENST00000613192.1:c.73+28178A>T	ENSP00000483275.1:n.73+28178A>T
ENST00000613374.4:c.158+28178A>T	ENSP00000484464.1:n.158+28178A>T
ENST00000613706.4:c.215+15827A>T	ENSP00000484976.1:n.215+15827A>T
ENST00000617164.4:c.583A>T	ENSP00000480470.1:p.Ile195Phe
ENST00000619009.4:c.364+11063A>T	ENSP00000482293.1:n.364+11063A>T
ENST00000620057.4:c.364+11063A>T	ENSP00000481988.1:n.364+11063A>T
NM_000465.3:c.640A>T	NP_000456.2:p.Ile214Phe
NM_001282543.1:c.583A>T	NP_001269472.1:p.Ile195Phe
NM_001282545.1:c.215+15827A>T	NP_001269474.1:n.215+15827A>T
NM_001282548.1:c.158+28178A>T	NP_001269477.1:n.158+28178A>T
NM_001282549.1:c.364+11063A>T	NP_001269478.1:n.364+11063A>T
NR_104212.1:n.633A>T
NR_104215.1:n.576A>T
NR_104216.1:n.506+11063A>T
XM_011511567.1:c.586A>T	XP_011509869.1:p.Ile196Phe
XM_011511568.1:c.640A>T	XP_011509870.1:p.Ile214Phe
XM_017004613.1:c.739A>T	XP_016860102.1:p.Ile247Phe
XM_017004614.1:c.739A>T	XP_016860103.1:p.Ile247Phe
XR_002959322.1:n.830A>T
NM_000465.4:c.640A>T MANE Select	NP_000456.2:p.Ile214Phe
NM_001282543.2:c.583A>T	NP_001269472.1:p.Ile195Phe
NM_001282545.2:c.215+15827A>T	NP_001269474.1:n.215+15827A>T
NM_001282548.2:c.158+28178A>T	NP_001269477.1:n.158+28178A>T
NM_001282549.2:c.364+11063A>T	NP_001269478.1:n.364+11063A>T
NR_104212.2:n.605A>T
NR_104215.2:n.548A>T
NR_104216.2:n.478+11063A>T