Canonical Allele Identifier: CA431390757

Gene: BARD1

Linked Data

• dbSNP Id: rs864622443
• MyVariant Identifiers: chr2:g.215645584G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780860G>A , CM000664.2:g.214780860G>A	GRCh38
NC_000002.11:g.215645584G>A , CM000664.1:g.215645584G>A	GRCh37
NC_000002.10:g.215353829G>A	NCBI36
NG_012047.2:g.33845C>T
NG_012047.3:g.33852C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1014C>T MANE Select	ENSP00000260947.4:p.Thr338=
ENST00000421162.2:c.215+16201C>T	ENSP00000392245.2:n.215+16201C>T
ENST00000613192.2:c.158+28552C>T	ENSP00000483275.2:n.158+28552C>T
ENST00000613374.5:c.159-28305C>T	ENSP00000484464.1:n.159-28305C>T
ENST00000613706.5:c.906+108C>T	ENSP00000484976.2:n.906+108C>T
ENST00000617164.5:c.957C>T	ENSP00000480470.1:p.Thr319=
ENST00000619009.5:c.364+11437C>T	ENSP00000482293.1:n.364+11437C>T
ENST00000650978.1:c.856C>T
ENST00000260947.8:c.1014C>T	ENSP00000260947.4:p.Thr338=
ENST00000421162.1:c.215+16201C>T	ENSP00000392245.1:n.215+16201C>T
ENST00000455743.5:c.*634C>T	ENSP00000412186.1:n.*634C>T
ENST00000613192.1:c.73+28552C>T	ENSP00000483275.1:n.73+28552C>T
ENST00000613374.4:c.159-28305C>T	ENSP00000484464.1:n.159-28305C>T
ENST00000613706.4:c.215+16201C>T	ENSP00000484976.1:n.215+16201C>T
ENST00000617164.4:c.957C>T	ENSP00000480470.1:p.Thr319=
ENST00000619009.4:c.364+11437C>T	ENSP00000482293.1:n.364+11437C>T
ENST00000620057.4:c.364+11437C>T	ENSP00000481988.1:n.364+11437C>T
NM_000465.3:c.1014C>T	NP_000456.2:p.Thr338=
NM_001282543.1:c.957C>T	NP_001269472.1:p.Thr319=
NM_001282545.1:c.215+16201C>T	NP_001269474.1:n.215+16201C>T
NM_001282548.1:c.159-28305C>T	NP_001269477.1:n.159-28305C>T
NM_001282549.1:c.364+11437C>T	NP_001269478.1:n.364+11437C>T
NR_104212.1:n.1007C>T
NR_104215.1:n.950C>T
NR_104216.1:n.506+11437C>T
XM_011511567.1:c.960C>T	XP_011509869.1:p.Thr320=
XM_011511568.1:c.1014C>T	XP_011509870.1:p.Thr338=
XM_017004613.1:c.1113C>T	XP_016860102.1:p.Thr371=
XM_017004614.1:c.1113C>T	XP_016860103.1:p.Thr371=
XR_002959322.1:n.1204C>T
NM_000465.4:c.1014C>T MANE Select	NP_000456.2:p.Thr338=
NM_001282543.2:c.957C>T	NP_001269472.1:p.Thr319=
NM_001282545.2:c.215+16201C>T	NP_001269474.1:n.215+16201C>T
NM_001282548.2:c.159-28305C>T	NP_001269477.1:n.159-28305C>T
NM_001282549.2:c.364+11437C>T	NP_001269478.1:n.364+11437C>T
NR_104212.2:n.979C>T
NR_104215.2:n.922C>T
NR_104216.2:n.478+11437C>T