Canonical Allele Identifier: CA024044

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38046
• ClinVar RCV Id: RCV000031628 ; RCV000044952 ; RCV000258965 ; RCV000563635 ; RCV001271045 ; RCV003473201
• dbSNP Id: rs80359590
• MyVariant Identifiers: chr13:g.32914936dupT (hg19) ; chr13:g.32340799dupT (hg38)
• PubMed: PMID:12569143 ; PMID:22666503

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340799dup , CM000675.2:g.32340799dup	GRCh38
NC_000013.10:g.32914936dup , CM000675.1:g.32914936dup	GRCh37
NC_000013.9:g.31812936dup	NCBI36
NG_012772.3:g.30320dup , LRG_293:g.30320dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6444dup	ENSP00000434898.2:p.Ile2149TyrfsTer2
ENST00000528762.2:c.6444dup	ENSP00000433168.2:p.Ile2149TyrfsTer2
ENST00000530893.7:c.6075dup	ENSP00000499438.2:p.Ile2026TyrfsTer2
ENST00000665585.2:c.6444dup	ENSP00000499570.2:p.Ile2149TyrfsTer2
ENST00000666593.2:c.6444dup	ENSP00000499256.2:p.Ile2149TyrfsTer2
ENST00000700202.2:c.6444dup	ENSP00000514856.2:p.Ile2149TyrfsTer2
ENST00000380152.8:c.6444dup MANE Select	ENSP00000369497.3:p.Ile2149TyrfsTer2
ENST00000544455.6:c.6444dup	ENSP00000439902.1:p.Ile2149TyrfsTer2
ENST00000614259.2:c.6444dup	ENSP00000506251.1:p.Ile2149TyrfsTer2
ENST00000680887.1:c.6444dup	ENSP00000505508.1:p.Ile2149TyrfsTer2
ENST00000380152.7:c.6444dup	ENSP00000369497.3:p.Ile2149TyrfsTer2
ENST00000544455.5:c.6444dup	ENSP00000439902.1:p.Ile2149TyrfsTer2
ENST00000614259.1:n.6444dup
NM_000059.3:c.6444dup , LRG_293t1:c.6444dup	NP_000050.2:p.Ile2149TyrfsTer2
XM_011535203.1:c.6444dup	XP_011533505.1:p.Ile2149TyrfsTer2
XM_011535204.1:c.6444dup	XP_011533506.1:p.Ile2149TyrfsTer2
XM_011535205.1:c.6444dup	XP_011533507.1:p.Ile2149TyrfsTer2
NM_000059.4:c.6444dup MANE Select	NP_000050.3:p.Ile2149TyrfsTer2