Canonical Allele Identifier: CA954692941

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072354797
• gnomAD v3: 13-32326973-CTT-C
• gnomAD v4: 13-32326973-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326976_32326977del , CM000675.2:g.32326976_32326977del	GRCh38
NC_000013.10:g.32901113_32901114del , CM000675.1:g.32901113_32901114del	GRCh37
NC_000013.9:g.31799113_31799114del	NCBI36
NG_012772.3:g.16497_16498del , LRG_293:g.16497_16498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.631+363_631+364del	ENSP00000434898.2:n.631+363_631+364del
ENST00000528762.2:c.631+363_631+364del	ENSP00000433168.2:n.631+363_631+364del
ENST00000530893.7:c.262+363_262+364del	ENSP00000499438.2:n.262+363_262+364del
ENST00000665585.2:c.631+363_631+364del	ENSP00000499570.2:n.631+363_631+364del
ENST00000666593.2:c.631+363_631+364del	ENSP00000499256.2:n.631+363_631+364del
ENST00000700202.2:c.631+363_631+364del	ENSP00000514856.2:n.631+363_631+364del
ENST00000700201.1:c.*410+363_*410+364del	ENSP00000514855.1:n.*410+363_*410+364del
ENST00000380152.8:c.631+363_631+364del MANE Select	ENSP00000369497.3:n.631+363_631+364del
ENST00000544455.6:c.631+363_631+364del	ENSP00000439902.1:n.631+363_631+364del
ENST00000614259.2:c.631+363_631+364del	ENSP00000506251.1:n.631+363_631+364del
ENST00000680887.1:c.631+363_631+364del	ENSP00000505508.1:n.631+363_631+364del
ENST00000380152.7:c.631+363_631+364del	ENSP00000369497.3:n.631+363_631+364del
ENST00000530893.6:n.829+363_829+364del
ENST00000544455.5:c.631+363_631+364del	ENSP00000439902.1:n.631+363_631+364del
ENST00000614259.1:n.631+363_631+364del
NM_000059.3:c.631+363_631+364del , LRG_293t1:c.631+363_631+364del	NP_000050.2:n.631+363_631+364del
XM_011535203.1:c.631+363_631+364del	XP_011533505.1:n.631+363_631+364del
XM_011535204.1:c.631+363_631+364del	XP_011533506.1:n.631+363_631+364del
XM_011535205.1:c.631+363_631+364del	XP_011533507.1:n.631+363_631+364del
NM_000059.4:c.631+363_631+364del MANE Select	NP_000050.3:n.631+363_631+364del