Canonical Allele Identifier: CA645372936

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 433834
• ClinVar RCV Id: RCV000501509 ; RCV000661796
• dbSNP Id: rs1555288462
• MyVariant Identifiers: chr13:g.32953947_32953950dup (hg19) ; chr13:g.32379810_32379813dup (hg38)
• PubMed: PMID:12955716

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379810_32379813dup , CM000675.2:g.32379810_32379813dup	GRCh38
NC_000013.10:g.32953947_32953950dup , CM000675.1:g.32953947_32953950dup	GRCh37
NC_000013.9:g.31851947_31851950dup	NCBI36
NG_012772.3:g.69331_69334dup , LRG_293:g.69331_69334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9014_9017dup	ENSP00000434898.2:p.Tyr3006Ter
ENST00000528762.2:c.*381_*384dup	ENSP00000433168.2:n.*381_*384dup
ENST00000530893.7:c.8645_8648dup	ENSP00000499438.2:p.Tyr2883Ter
ENST00000665585.2:c.*576_*579dup	ENSP00000499570.2:n.*576_*579dup
ENST00000666593.2:c.9014_9017dup	ENSP00000499256.2:p.Tyr3006Ter
ENST00000700202.2:c.8963_8966dup	ENSP00000514856.2:p.Tyr2989Ter
ENST00000700202.1:c.1430_1433dup	ENSP00000514856.1:p.Tyr478Ter
ENST00000700203.1:n.1141_1144dup
ENST00000380152.8:c.9014_9017dup MANE Select	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.6:c.9014_9017dup	ENSP00000439902.1:p.Tyr3006Ter
ENST00000614259.2:c.9022_9025dup	ENSP00000506251.1:n.9022_9025dup
ENST00000665585.1:c.1892_1895dup
ENST00000680887.1:c.9014_9017dup	ENSP00000505508.1:p.Tyr3006Ter
ENST00000380152.7:c.9014_9017dup	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.5:c.9014_9017dup	ENSP00000439902.1:p.Tyr3006Ter
NM_000059.3:c.9014_9017dup , LRG_293t1:c.9014_9017dup	NP_000050.2:p.Tyr3006Ter
XM_011535203.1:c.9014_9017dup	XP_011533505.1:p.Tyr3006Ter
XM_011535204.1:c.8918_8921dup	XP_011533506.1:p.Tyr2974Ter
XM_011535205.1:c.*52_*55dup	XP_011533507.1:n.*52_*55dup
NM_000059.4:c.9014_9017dup MANE Select	NP_000050.3:p.Tyr3006Ter