Canonical Allele Identifier: CA10581593

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 236284
• ClinVar RCV Id: RCV000225577
• dbSNP Id: rs878853304
• MyVariant Identifiers: chr13:g.32936794_32936795insC (hg19) ; chr13:g.32362657_32362658insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362657_32362658insC , CM000675.2:g.32362657_32362658insC	GRCh38
NC_000013.10:g.32936794_32936795insC , CM000675.1:g.32936794_32936795insC	GRCh37
NC_000013.9:g.31834794_31834795insC	NCBI36
NG_012772.3:g.52178_52179insC , LRG_293:g.52178_52179insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7940_7941insC	ENSP00000434898.2:p.Ser2648LysfsTer14
ENST00000528762.2:c.7940_7941insC	ENSP00000433168.2:p.Ser2648LysfsTer14
ENST00000530893.7:c.7571_7572insC	ENSP00000499438.2:p.Ser2525LysfsTer14
ENST00000665585.2:c.7940_7941insC	ENSP00000499570.2:p.Ser2648LysfsTer14
ENST00000666593.2:c.7940_7941insC	ENSP00000499256.2:p.Ser2648LysfsTer14
ENST00000700202.2:c.7940_7941insC	ENSP00000514856.2:p.Ser2648LysfsTer14
ENST00000700202.1:c.407_408insC	ENSP00000514856.1:p.Ser137LysfsTer14
ENST00000380152.8:c.7940_7941insC MANE Select	ENSP00000369497.3:p.Ser2648LysfsTer14
ENST00000544455.6:c.7940_7941insC	ENSP00000439902.1:p.Ser2648LysfsTer14
ENST00000614259.2:c.7948_7949insC	ENSP00000506251.1:p.Ter2650SerextTer?
ENST00000665585.1:c.505_506insC
ENST00000680887.1:c.7940_7941insC	ENSP00000505508.1:p.Ser2648LysfsTer14
ENST00000380152.7:c.7940_7941insC	ENSP00000369497.3:p.Ser2648LysfsTer14
ENST00000544455.5:c.7940_7941insC	ENSP00000439902.1:p.Ser2648LysfsTer14
ENST00000614259.1:n.7948_7949insC
NM_000059.3:c.7940_7941insC , LRG_293t1:c.7940_7941insC	NP_000050.2:p.Ser2648LysfsTer14
XM_011535203.1:c.7940_7941insC	XP_011533505.1:p.Ser2648LysfsTer14
XM_011535204.1:c.7844_7845insC	XP_011533506.1:p.Ser2616LysfsTer14
XM_011535205.1:c.7940_7941insC	XP_011533507.1:p.Ser2648LysfsTer14
NM_000059.4:c.7940_7941insC MANE Select	NP_000050.3:p.Ser2648LysfsTer14