Canonical Allele Identifier: CA954692850

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072352492
• gnomAD v3: 13-32326680-TTC-T
• gnomAD v4: 13-32326680-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326682_32326683del , CM000675.2:g.32326682_32326683del	GRCh38
NC_000013.10:g.32900819_32900820del , CM000675.1:g.32900819_32900820del	GRCh37
NC_000013.9:g.31798819_31798820del	NCBI36
NG_012772.3:g.16203_16204del , LRG_293:g.16203_16204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.631+69_631+70del	ENSP00000434898.2:n.631+69_631+70del
ENST00000528762.2:c.631+69_631+70del	ENSP00000433168.2:n.631+69_631+70del
ENST00000530893.7:c.262+69_262+70del	ENSP00000499438.2:n.262+69_262+70del
ENST00000665585.2:c.631+69_631+70del	ENSP00000499570.2:n.631+69_631+70del
ENST00000666593.2:c.631+69_631+70del	ENSP00000499256.2:n.631+69_631+70del
ENST00000700202.2:c.631+69_631+70del	ENSP00000514856.2:n.631+69_631+70del
ENST00000700200.1:n.571_572del
ENST00000700201.1:c.*410+69_*410+70del	ENSP00000514855.1:n.*410+69_*410+70del
ENST00000380152.8:c.631+69_631+70del MANE Select	ENSP00000369497.3:n.631+69_631+70del
ENST00000544455.6:c.631+69_631+70del	ENSP00000439902.1:n.631+69_631+70del
ENST00000614259.2:c.631+69_631+70del	ENSP00000506251.1:n.631+69_631+70del
ENST00000680887.1:c.631+69_631+70del	ENSP00000505508.1:n.631+69_631+70del
ENST00000380152.7:c.631+69_631+70del	ENSP00000369497.3:n.631+69_631+70del
ENST00000530893.6:n.829+69_829+70del
ENST00000544455.5:c.631+69_631+70del	ENSP00000439902.1:n.631+69_631+70del
ENST00000614259.1:n.631+69_631+70del
NM_000059.3:c.631+69_631+70del , LRG_293t1:c.631+69_631+70del	NP_000050.2:n.631+69_631+70del
XM_011535203.1:c.631+69_631+70del	XP_011533505.1:n.631+69_631+70del
XM_011535204.1:c.631+69_631+70del	XP_011533506.1:n.631+69_631+70del
XM_011535205.1:c.631+69_631+70del	XP_011533507.1:n.631+69_631+70del
NM_000059.4:c.631+69_631+70del MANE Select	NP_000050.3:n.631+69_631+70del