Canonical Allele Identifier: CA2695217836

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398503_32398505del , CM000675.2:g.32398503_32398505del	GRCh38
NC_000013.10:g.32972640_32972642del , CM000675.1:g.32972640_32972642del	GRCh37
NC_000013.9:g.31870640_31870642del	NCBI36
NG_012772.3:g.88024_88026del , LRG_293:g.88024_88026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*513_*515del	ENSP00000434898.2:n.*513_*515del
ENST00000528762.2:c.*1357_*1359del	ENSP00000433168.2:n.*1357_*1359del
ENST00000530893.7:c.9621_9623del	ENSP00000499438.2:p.Glu3207_Ile3208delinsAsp
ENST00000665585.2:c.*1552_*1554del	ENSP00000499570.2:n.*1552_*1554del
ENST00000700202.2:c.9939_9941del	ENSP00000514856.2:p.Glu3313_Ile3314delinsAsp
ENST00000700202.1:c.2406_2408del	ENSP00000514856.1:p.Glu802_Ile803delinsAsp
ENST00000700203.1:n.2117_2119del
ENST00000380152.8:c.9990_9992del MANE Select	ENSP00000369497.3:p.Glu3330_Ile3331delinsAsp
ENST00000544455.6:c.9990_9992del	ENSP00000439902.1:p.Glu3330_Ile3331delinsAsp
ENST00000614259.2:c.9998_10000del	ENSP00000506251.1:n.9998_10000del
ENST00000680887.1:c.9990_9992del	ENSP00000505508.1:p.Glu3330_Ile3331delinsAsp
ENST00000380152.7:c.9990_9992del	ENSP00000369497.3:p.Glu3330_Ile3331delinsAsp
ENST00000544455.5:c.9990_9992del	ENSP00000439902.1:p.Glu3330_Ile3331delinsAsp
NM_000059.3:c.9990_9992del , LRG_293t1:c.9990_9992del	NP_000050.2:p.Glu3330_Ile3331delinsAsp
XM_011535203.1:c.9990_9992del	XP_011533505.1:p.Glu3330_Ile3331delinsAsp
XM_011535204.1:c.9894_9896del	XP_011533506.1:p.Glu3298_Ile3299delinsAsp
NM_000059.4:c.9990_9992del MANE Select	NP_000050.3:p.Glu3330_Ile3331delinsAsp