Canonical Allele Identifier: CA019640

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37885
• ClinVar RCV Id: RCV000031466 ; RCV000044363 ; RCV000203655 ; RCV000509609 ; RCV003473171 ; RCV003483436
• dbSNP Id: rs276174843
• MyVariant Identifiers: chr13:g.32912655_32912656delinsA (hg19) ; chr13:g.32338518_32338519delinsA (hg38)
• PubMed: PMID:12655515 ; PMID:12698193 ; PMID:22711857 ; PMID:23242139 ; PMID:23633455 ; PMID:26681312

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338518_32338519delinsA , CM000675.2:g.32338518_32338519delinsA	GRCh38
NC_000013.10:g.32912655_32912656delinsA , CM000675.1:g.32912655_32912656delinsA	GRCh37
NC_000013.9:g.31810655_31810656delinsA	NCBI36
NG_012772.3:g.28039_28040delinsA , LRG_293:g.28039_28040delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4163_4164delinsA	ENSP00000434898.2:p.Thr1388AsnfsTer22
ENST00000528762.2:c.4163_4164delinsA	ENSP00000433168.2:p.Thr1388AsnfsTer22
ENST00000530893.7:c.3794_3795delinsA	ENSP00000499438.2:p.Thr1265AsnfsTer22
ENST00000665585.2:c.4163_4164delinsA	ENSP00000499570.2:p.Thr1388AsnfsTer22
ENST00000666593.2:c.4163_4164delinsA	ENSP00000499256.2:p.Thr1388AsnfsTer22
ENST00000700202.2:c.4163_4164delinsA	ENSP00000514856.2:p.Thr1388AsnfsTer22
ENST00000380152.8:c.4163_4164delinsA MANE Select	ENSP00000369497.3:p.Thr1388AsnfsTer22
ENST00000544455.6:c.4163_4164delinsA	ENSP00000439902.1:p.Thr1388AsnfsTer22
ENST00000614259.2:c.4163_4164delinsA	ENSP00000506251.1:p.Thr1388AsnfsTer22
ENST00000680887.1:c.4163_4164delinsA	ENSP00000505508.1:p.Thr1388AsnfsTer22
ENST00000380152.7:c.4163_4164delinsA	ENSP00000369497.3:p.Thr1388AsnfsTer22
ENST00000544455.5:c.4163_4164delinsA	ENSP00000439902.1:p.Thr1388AsnfsTer22
ENST00000614259.1:n.4163_4164delinsA
NM_000059.3:c.4163_4164delinsA , LRG_293t1:c.4163_4164delinsA	NP_000050.2:p.Thr1388AsnfsTer22
XM_011535203.1:c.4163_4164delinsA	XP_011533505.1:p.Thr1388AsnfsTer22
XM_011535204.1:c.4163_4164delinsA	XP_011533506.1:p.Thr1388AsnfsTer22
XM_011535205.1:c.4163_4164delinsA	XP_011533507.1:p.Thr1388AsnfsTer22
NM_000059.4:c.4163_4164delinsA MANE Select	NP_000050.3:p.Thr1388AsnfsTer22