Canonical Allele Identifier: CA658657240

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482839
• ClinVar RCV Id: RCV000564760 ; RCV002528107
• dbSNP Id: rs1553622178
• MyVariant Identifiers: chr2:g.215645387dup (hg19) ; chr2:g.214780663dup (hg38)
• PubMed: PMID:26315354

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780663dup , CM000664.2:g.214780663dup	GRCh38
NC_000002.11:g.215645387dup , CM000664.1:g.215645387dup	GRCh37
NC_000002.10:g.215353632dup	NCBI36
NG_012047.2:g.34042dup
NG_012047.3:g.34049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1211dup MANE Select	ENSP00000260947.4:p.Tyr404Ter
ENST00000421162.2:c.215+16398dup	ENSP00000392245.2:n.215+16398dup
ENST00000613192.2:c.158+28749dup	ENSP00000483275.2:n.158+28749dup
ENST00000613374.5:c.159-28108dup	ENSP00000484464.1:n.159-28108dup
ENST00000613706.5:c.906+305dup	ENSP00000484976.2:n.906+305dup
ENST00000617164.5:c.1154dup	ENSP00000480470.1:p.Tyr385Ter
ENST00000619009.5:c.364+11634dup	ENSP00000482293.1:n.364+11634dup
ENST00000650978.1:c.1053dup
ENST00000260947.8:c.1211dup	ENSP00000260947.4:p.Tyr404Ter
ENST00000421162.1:c.215+16398dup	ENSP00000392245.1:n.215+16398dup
ENST00000455743.5:c.*831dup	ENSP00000412186.1:n.*831dup
ENST00000613192.1:c.73+28749dup	ENSP00000483275.1:n.73+28749dup
ENST00000613374.4:c.159-28108dup	ENSP00000484464.1:n.159-28108dup
ENST00000613706.4:c.215+16398dup	ENSP00000484976.1:n.215+16398dup
ENST00000617164.4:c.1154dup	ENSP00000480470.1:p.Tyr385Ter
ENST00000619009.4:c.364+11634dup	ENSP00000482293.1:n.364+11634dup
ENST00000620057.4:c.365-11351dup	ENSP00000481988.1:n.365-11351dup
NM_000465.3:c.1211dup	NP_000456.2:p.Tyr404Ter
NM_001282543.1:c.1154dup	NP_001269472.1:p.Tyr385Ter
NM_001282545.1:c.215+16398dup	NP_001269474.1:n.215+16398dup
NM_001282548.1:c.159-28108dup	NP_001269477.1:n.159-28108dup
NM_001282549.1:c.364+11634dup	NP_001269478.1:n.364+11634dup
NR_104212.1:n.1204dup
NR_104215.1:n.1147dup
NR_104216.1:n.507-11351dup
XM_011511567.1:c.1157dup	XP_011509869.1:p.Tyr386Ter
XM_011511568.1:c.1211dup	XP_011509870.1:p.Tyr404Ter
XM_017004613.1:c.1310dup	XP_016860102.1:p.Tyr437Ter
XM_017004614.1:c.1310dup	XP_016860103.1:p.Tyr437Ter
XR_002959322.1:n.1401dup
NM_000465.4:c.1211dup MANE Select	NP_000456.2:p.Tyr404Ter
NM_001282543.2:c.1154dup	NP_001269472.1:p.Tyr385Ter
NM_001282545.2:c.215+16398dup	NP_001269474.1:n.215+16398dup
NM_001282548.2:c.159-28108dup	NP_001269477.1:n.159-28108dup
NM_001282549.2:c.364+11634dup	NP_001269478.1:n.364+11634dup
NR_104212.2:n.1176dup
NR_104215.2:n.1119dup
NR_104216.2:n.479-11351dup