Canonical Allele Identifier: CA431392003

Gene: BARD1

Linked Data

• ClinVar Variation Id: 530072
• ClinVar RCV Id: RCV000635691 ; RCV003162842
• dbSNP Id: rs1553622237
• MyVariant Identifiers: chr2:g.215645473T>C (hg19) ; chr2:g.214780749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780749T>C , CM000664.2:g.214780749T>C	GRCh38
NC_000002.11:g.215645473T>C , CM000664.1:g.215645473T>C	GRCh37
NC_000002.10:g.215353718T>C	NCBI36
NG_012047.2:g.33956A>G
NG_012047.3:g.33963A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1125A>G MANE Select	ENSP00000260947.4:p.Thr375=
ENST00000421162.2:c.215+16312A>G	ENSP00000392245.2:n.215+16312A>G
ENST00000613192.2:c.158+28663A>G	ENSP00000483275.2:n.158+28663A>G
ENST00000613374.5:c.159-28194A>G	ENSP00000484464.1:n.159-28194A>G
ENST00000613706.5:c.906+219A>G	ENSP00000484976.2:n.906+219A>G
ENST00000617164.5:c.1068A>G	ENSP00000480470.1:p.Thr356=
ENST00000619009.5:c.364+11548A>G	ENSP00000482293.1:n.364+11548A>G
ENST00000650978.1:c.967A>G
ENST00000260947.8:c.1125A>G	ENSP00000260947.4:p.Thr375=
ENST00000421162.1:c.215+16312A>G	ENSP00000392245.1:n.215+16312A>G
ENST00000455743.5:c.*745A>G	ENSP00000412186.1:n.*745A>G
ENST00000613192.1:c.73+28663A>G	ENSP00000483275.1:n.73+28663A>G
ENST00000613374.4:c.159-28194A>G	ENSP00000484464.1:n.159-28194A>G
ENST00000613706.4:c.215+16312A>G	ENSP00000484976.1:n.215+16312A>G
ENST00000617164.4:c.1068A>G	ENSP00000480470.1:p.Thr356=
ENST00000619009.4:c.364+11548A>G	ENSP00000482293.1:n.364+11548A>G
ENST00000620057.4:c.365-11437A>G	ENSP00000481988.1:n.365-11437A>G
NM_000465.3:c.1125A>G	NP_000456.2:p.Thr375=
NM_001282543.1:c.1068A>G	NP_001269472.1:p.Thr356=
NM_001282545.1:c.215+16312A>G	NP_001269474.1:n.215+16312A>G
NM_001282548.1:c.159-28194A>G	NP_001269477.1:n.159-28194A>G
NM_001282549.1:c.364+11548A>G	NP_001269478.1:n.364+11548A>G
NR_104212.1:n.1118A>G
NR_104215.1:n.1061A>G
NR_104216.1:n.507-11437A>G
XM_011511567.1:c.1071A>G	XP_011509869.1:p.Thr357=
XM_011511568.1:c.1125A>G	XP_011509870.1:p.Thr375=
XM_017004613.1:c.1224A>G	XP_016860102.1:p.Thr408=
XM_017004614.1:c.1224A>G	XP_016860103.1:p.Thr408=
XR_002959322.1:n.1315A>G
NM_000465.4:c.1125A>G MANE Select	NP_000456.2:p.Thr375=
NM_001282543.2:c.1068A>G	NP_001269472.1:p.Thr356=
NM_001282545.2:c.215+16312A>G	NP_001269474.1:n.215+16312A>G
NM_001282548.2:c.159-28194A>G	NP_001269477.1:n.159-28194A>G
NM_001282549.2:c.364+11548A>G	NP_001269478.1:n.364+11548A>G
NR_104212.2:n.1090A>G
NR_104215.2:n.1033A>G
NR_104216.2:n.479-11437A>G