Canonical Allele Identifier: CA2082814338

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1039685
• ClinVar RCV Id: RCV001343205
• dbSNP Id: rs2072823339

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370543_32370545del , CM000675.2:g.32370543_32370545del	GRCh38
NC_000013.10:g.32944680_32944682del , CM000675.1:g.32944680_32944682del	GRCh37
NC_000013.9:g.31842680_31842682del	NCBI36
NG_012772.3:g.60064_60066del , LRG_293:g.60064_60066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8473_8475del	ENSP00000434898.2:p.Ala2825del
ENST00000528762.2:c.8473_8475del	ENSP00000433168.2:p.Ala2825del
ENST00000530893.7:c.8104_8106del	ENSP00000499438.2:p.Ala2702del
ENST00000665585.2:c.8473_8475del	ENSP00000499570.2:p.Ala2825del
ENST00000666593.2:c.8473_8475del	ENSP00000499256.2:p.Ala2825del
ENST00000700202.2:c.8473_8475del	ENSP00000514856.2:p.Ala2825del
ENST00000700202.1:c.940_942del	ENSP00000514856.1:p.Ala314del
ENST00000380152.8:c.8473_8475del MANE Select	ENSP00000369497.3:p.Ala2825del
ENST00000544455.6:c.8473_8475del	ENSP00000439902.1:p.Ala2825del
ENST00000614259.2:c.8481_8483del	ENSP00000506251.1:n.8481_8483del
ENST00000665585.1:c.1038_1040del
ENST00000680887.1:c.8473_8475del	ENSP00000505508.1:p.Ala2825del
ENST00000380152.7:c.8473_8475del	ENSP00000369497.3:p.Ala2825del
ENST00000544455.5:c.8473_8475del	ENSP00000439902.1:p.Ala2825del
NM_000059.3:c.8473_8475del , LRG_293t1:c.8473_8475del	NP_000050.2:p.Ala2825del
XM_011535203.1:c.8473_8475del	XP_011533505.1:p.Ala2825del
XM_011535204.1:c.8377_8379del	XP_011533506.1:p.Ala2793del
XM_011535205.1:c.8473_8475del	XP_011533507.1:p.Ala2825del
NM_000059.4:c.8473_8475del MANE Select	NP_000050.3:p.Ala2825del