Canonical Allele Identifier: CA2499222313

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1050427
• ClinVar RCV Id: RCV001357847
• dbSNP Id: rs2137577128

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362603_32362614del , CM000675.2:g.32362603_32362614del	GRCh38
NC_000013.10:g.32936740_32936751del , CM000675.1:g.32936740_32936751del	GRCh37
NC_000013.9:g.31834740_31834751del	NCBI36
NG_012772.3:g.52124_52135del , LRG_293:g.52124_52135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7886_7897del	ENSP00000434898.2:p.Trp2629_Ala2633delinsSer
ENST00000528762.2:c.7886_7897del	ENSP00000433168.2:p.Trp2629_Ala2633delinsSer
ENST00000530893.7:c.7517_7528del	ENSP00000499438.2:p.Trp2506_Ala2510delinsSer
ENST00000665585.2:c.7886_7897del	ENSP00000499570.2:p.Trp2629_Ala2633delinsSer
ENST00000666593.2:c.7886_7897del	ENSP00000499256.2:p.Trp2629_Ala2633delinsSer
ENST00000700202.2:c.7886_7897del	ENSP00000514856.2:p.Trp2629_Ala2633delinsSer
ENST00000700202.1:c.353_364del	ENSP00000514856.1:p.Trp118_Ala122delinsSer
ENST00000380152.8:c.7886_7897del MANE Select	ENSP00000369497.3:p.Trp2629_Ala2633delinsSer
ENST00000544455.6:c.7886_7897del	ENSP00000439902.1:p.Trp2629_Ala2633delinsSer
ENST00000614259.2:c.7894_7905del	ENSP00000506251.1:p.Gly2632_Gln2635del
ENST00000665585.1:c.451_462del
ENST00000680887.1:c.7886_7897del	ENSP00000505508.1:p.Trp2629_Ala2633delinsSer
ENST00000380152.7:c.7886_7897del	ENSP00000369497.3:p.Trp2629_Ala2633delinsSer
ENST00000544455.5:c.7886_7897del	ENSP00000439902.1:p.Trp2629_Ala2633delinsSer
ENST00000614259.1:n.7894_7905del
NM_000059.3:c.7886_7897del , LRG_293t1:c.7886_7897del	NP_000050.2:p.Trp2629_Ala2633delinsSer
XM_011535203.1:c.7886_7897del	XP_011533505.1:p.Trp2629_Ala2633delinsSer
XM_011535204.1:c.7790_7801del	XP_011533506.1:p.Trp2597_Ala2601delinsSer
XM_011535205.1:c.7886_7897del	XP_011533507.1:p.Trp2629_Ala2633delinsSer
NM_000059.4:c.7886_7897del MANE Select	NP_000050.3:p.Trp2629_Ala2633delinsSer