Canonical Allele Identifier: CA10589537

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267128
• ClinVar RCV Id: RCV000257514 ; RCV003530044
• dbSNP Id: rs886040810
• MyVariant Identifiers: chr13:g.32953950dupA (hg19) ; chr13:g.32379813dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379813dup , CM000675.2:g.32379813dup	GRCh38
NC_000013.10:g.32953950dup , CM000675.1:g.32953950dup	GRCh37
NC_000013.9:g.31851950dup	NCBI36
NG_012772.3:g.69334dup , LRG_293:g.69334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9017dup	ENSP00000434898.2:p.Tyr3006Ter
ENST00000528762.2:c.*384dup	ENSP00000433168.2:n.*384dup
ENST00000530893.7:c.8648dup	ENSP00000499438.2:p.Tyr2883Ter
ENST00000665585.2:c.*579dup	ENSP00000499570.2:n.*579dup
ENST00000666593.2:c.9017dup	ENSP00000499256.2:p.Tyr3006Ter
ENST00000700202.2:c.8966dup	ENSP00000514856.2:p.Tyr2989Ter
ENST00000700202.1:c.1433dup	ENSP00000514856.1:p.Tyr478Ter
ENST00000700203.1:n.1144dup
ENST00000380152.8:c.9017dup MANE Select	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.6:c.9017dup	ENSP00000439902.1:p.Tyr3006Ter
ENST00000614259.2:c.9025dup	ENSP00000506251.1:n.9025dup
ENST00000665585.1:c.1895dup
ENST00000680887.1:c.9017dup	ENSP00000505508.1:p.Tyr3006Ter
ENST00000380152.7:c.9017dup	ENSP00000369497.3:p.Tyr3006Ter
ENST00000544455.5:c.9017dup	ENSP00000439902.1:p.Tyr3006Ter
NM_000059.3:c.9017dup , LRG_293t1:c.9017dup	NP_000050.2:p.Tyr3006Ter
XM_011535203.1:c.9017dup	XP_011533505.1:p.Tyr3006Ter
XM_011535204.1:c.8921dup	XP_011533506.1:p.Tyr2974Ter
XM_011535205.1:c.*55dup	XP_011533507.1:n.*55dup
NM_000059.4:c.9017dup MANE Select	NP_000050.3:p.Tyr3006Ter