Canonical Allele Identifier: CA431391558

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645668A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780944A>T , CM000664.2:g.214780944A>T	GRCh38
NC_000002.11:g.215645668A>T , CM000664.1:g.215645668A>T	GRCh37
NC_000002.10:g.215353913A>T	NCBI36
NG_012047.2:g.33761T>A
NG_012047.3:g.33768T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.930T>A MANE Select	ENSP00000260947.4:p.Ser310=
ENST00000421162.2:c.215+16117T>A	ENSP00000392245.2:n.215+16117T>A
ENST00000613192.2:c.158+28468T>A	ENSP00000483275.2:n.158+28468T>A
ENST00000613374.5:c.159-28389T>A	ENSP00000484464.1:n.159-28389T>A
ENST00000613706.5:c.906+24T>A	ENSP00000484976.2:n.906+24T>A
ENST00000617164.5:c.873T>A	ENSP00000480470.1:p.Ser291=
ENST00000619009.5:c.364+11353T>A	ENSP00000482293.1:n.364+11353T>A
ENST00000650978.1:c.772T>A
ENST00000260947.8:c.930T>A	ENSP00000260947.4:p.Ser310=
ENST00000421162.1:c.215+16117T>A	ENSP00000392245.1:n.215+16117T>A
ENST00000455743.5:c.*550T>A	ENSP00000412186.1:n.*550T>A
ENST00000471787.1:n.825T>A
ENST00000613192.1:c.73+28468T>A	ENSP00000483275.1:n.73+28468T>A
ENST00000613374.4:c.159-28389T>A	ENSP00000484464.1:n.159-28389T>A
ENST00000613706.4:c.215+16117T>A	ENSP00000484976.1:n.215+16117T>A
ENST00000617164.4:c.873T>A	ENSP00000480470.1:p.Ser291=
ENST00000619009.4:c.364+11353T>A	ENSP00000482293.1:n.364+11353T>A
ENST00000620057.4:c.364+11353T>A	ENSP00000481988.1:n.364+11353T>A
NM_000465.3:c.930T>A	NP_000456.2:p.Ser310=
NM_001282543.1:c.873T>A	NP_001269472.1:p.Ser291=
NM_001282545.1:c.215+16117T>A	NP_001269474.1:n.215+16117T>A
NM_001282548.1:c.159-28389T>A	NP_001269477.1:n.159-28389T>A
NM_001282549.1:c.364+11353T>A	NP_001269478.1:n.364+11353T>A
NR_104212.1:n.923T>A
NR_104215.1:n.866T>A
NR_104216.1:n.506+11353T>A
XM_011511567.1:c.876T>A	XP_011509869.1:p.Ser292=
XM_011511568.1:c.930T>A	XP_011509870.1:p.Ser310=
XM_017004613.1:c.1029T>A	XP_016860102.1:p.Ser343=
XM_017004614.1:c.1029T>A	XP_016860103.1:p.Ser343=
XR_002959322.1:n.1120T>A
NM_000465.4:c.930T>A MANE Select	NP_000456.2:p.Ser310=
NM_001282543.2:c.873T>A	NP_001269472.1:p.Ser291=
NM_001282545.2:c.215+16117T>A	NP_001269474.1:n.215+16117T>A
NM_001282548.2:c.159-28389T>A	NP_001269477.1:n.159-28389T>A
NM_001282549.2:c.364+11353T>A	NP_001269478.1:n.364+11353T>A
NR_104212.2:n.895T>A
NR_104215.2:n.838T>A
NR_104216.2:n.478+11353T>A