Canonical Allele Identifier: CA350454132

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645535C>A (hg19) ; chr2:g.214780811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780811C>A , CM000664.2:g.214780811C>A	GRCh38
NC_000002.11:g.215645535C>A , CM000664.1:g.215645535C>A	GRCh37
NC_000002.10:g.215353780C>A	NCBI36
NG_012047.2:g.33894G>T
NG_012047.3:g.33901G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1063G>T MANE Select	ENSP00000260947.4:p.Glu355Ter
ENST00000421162.2:c.215+16250G>T	ENSP00000392245.2:n.215+16250G>T
ENST00000613192.2:c.158+28601G>T	ENSP00000483275.2:n.158+28601G>T
ENST00000613374.5:c.159-28256G>T	ENSP00000484464.1:n.159-28256G>T
ENST00000613706.5:c.906+157G>T	ENSP00000484976.2:n.906+157G>T
ENST00000617164.5:c.1006G>T	ENSP00000480470.1:p.Glu336Ter
ENST00000619009.5:c.364+11486G>T	ENSP00000482293.1:n.364+11486G>T
ENST00000650978.1:c.905G>T
ENST00000260947.8:c.1063G>T	ENSP00000260947.4:p.Glu355Ter
ENST00000421162.1:c.215+16250G>T	ENSP00000392245.1:n.215+16250G>T
ENST00000455743.5:c.*683G>T	ENSP00000412186.1:n.*683G>T
ENST00000613192.1:c.73+28601G>T	ENSP00000483275.1:n.73+28601G>T
ENST00000613374.4:c.159-28256G>T	ENSP00000484464.1:n.159-28256G>T
ENST00000613706.4:c.215+16250G>T	ENSP00000484976.1:n.215+16250G>T
ENST00000617164.4:c.1006G>T	ENSP00000480470.1:p.Glu336Ter
ENST00000619009.4:c.364+11486G>T	ENSP00000482293.1:n.364+11486G>T
ENST00000620057.4:c.364+11486G>T	ENSP00000481988.1:n.364+11486G>T
NM_000465.3:c.1063G>T	NP_000456.2:p.Glu355Ter
NM_001282543.1:c.1006G>T	NP_001269472.1:p.Glu336Ter
NM_001282545.1:c.215+16250G>T	NP_001269474.1:n.215+16250G>T
NM_001282548.1:c.159-28256G>T	NP_001269477.1:n.159-28256G>T
NM_001282549.1:c.364+11486G>T	NP_001269478.1:n.364+11486G>T
NR_104212.1:n.1056G>T
NR_104215.1:n.999G>T
NR_104216.1:n.506+11486G>T
XM_011511567.1:c.1009G>T	XP_011509869.1:p.Glu337Ter
XM_011511568.1:c.1063G>T	XP_011509870.1:p.Glu355Ter
XM_017004613.1:c.1162G>T	XP_016860102.1:p.Glu388Ter
XM_017004614.1:c.1162G>T	XP_016860103.1:p.Glu388Ter
XR_002959322.1:n.1253G>T
NM_000465.4:c.1063G>T MANE Select	NP_000456.2:p.Glu355Ter
NM_001282543.2:c.1006G>T	NP_001269472.1:p.Glu336Ter
NM_001282545.2:c.215+16250G>T	NP_001269474.1:n.215+16250G>T
NM_001282548.2:c.159-28256G>T	NP_001269477.1:n.159-28256G>T
NM_001282549.2:c.364+11486G>T	NP_001269478.1:n.364+11486G>T
NR_104212.2:n.1028G>T
NR_104215.2:n.971G>T
NR_104216.2:n.478+11486G>T