Canonical Allele Identifier: CA3250154622

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394807_32394808delinsTG , CM000675.2:g.32394807_32394808delinsTG	GRCh38
NC_000013.10:g.32968944_32968945delinsTG , CM000675.1:g.32968944_32968945delinsTG	GRCh37
NC_000013.9:g.31866944_31866945delinsTG	NCBI36
NG_012772.3:g.84328_84329delinsTG , LRG_293:g.84328_84329delinsTG

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9375_9376delinsTG MANE Select	NP_000050.3:p.Gln3126Glu
ENST00000380152.8:c.9375_9376delinsTG MANE Select	ENSP00000369497.3:p.Gln3126Glu
NM_000059.3:c.9375_9376delinsTG , LRG_293t1:c.9375_9376delinsTG	NP_000050.2:p.Gln3126Glu
ENST00000380152.7:c.9375_9376delinsTG	ENSP00000369497.3:p.Gln3126Glu
ENST00000470094.1:c.332_333delinsTG
ENST00000470094.2:c.9375_9376delinsTG	ENSP00000434898.2:p.Gln3126Glu
ENST00000528762.2:c.*742_*743delinsTG	ENSP00000433168.2:n.*742_*743delinsTG
ENST00000530893.7:c.9006_9007delinsTG	ENSP00000499438.2:p.Gln3003Glu
ENST00000544455.5:c.9375_9376delinsTG	ENSP00000439902.1:p.Gln3126Glu
ENST00000544455.6:c.9375_9376delinsTG	ENSP00000439902.1:p.Gln3126Glu
ENST00000614259.2:c.9383_9384delinsTG	ENSP00000506251.1:n.9383_9384delinsTG
ENST00000665585.1:c.2253_2254delinsTG
ENST00000665585.2:c.*937_*938delinsTG	ENSP00000499570.2:n.*937_*938delinsTG
ENST00000666593.1:c.397_398delinsTG	ENSP00000499256.1:n.397_398delinsTG
ENST00000666593.2:c.*220_*221delinsTG	ENSP00000499256.2:n.*220_*221delinsTG
ENST00000680887.1:c.9375_9376delinsTG	ENSP00000505508.1:p.Gln3126Glu
ENST00000700202.1:c.1791_1792delinsTG	ENSP00000514856.1:p.Gln598Glu
ENST00000700202.2:c.9324_9325delinsTG	ENSP00000514856.2:p.Gln3109Glu
ENST00000700203.1:n.1502_1503delinsTG
XM_011535203.1:c.9375_9376delinsTG	XP_011533505.1:p.Gln3126Glu
XM_011535204.1:c.9279_9280delinsTG	XP_011533506.1:p.Gln3094Glu