Canonical Allele Identifier: CA2082841060

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380123_32380124delinsCG , CM000675.2:g.32380123_32380124delinsCG	GRCh38
NC_000013.10:g.32954260_32954261delinsCG , CM000675.1:g.32954260_32954261delinsCG	GRCh37
NC_000013.9:g.31852260_31852261delinsCG	NCBI36
NG_012772.3:g.69644_69645delinsCG , LRG_293:g.69644_69645delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9234_9235delinsCG	ENSP00000434898.2:p.Val3078=
ENST00000528762.2:c.*601_*602delinsCG	ENSP00000433168.2:n.*601_*602delinsCG
ENST00000530893.7:c.8865_8866delinsCG	ENSP00000499438.2:p.Val2955=
ENST00000665585.2:c.*796_*797delinsCG	ENSP00000499570.2:n.*796_*797delinsCG
ENST00000666593.2:c.9234_9235delinsCG	ENSP00000499256.2:p.Val3078=
ENST00000700202.2:c.9183_9184delinsCG	ENSP00000514856.2:p.Val3061=
ENST00000700202.1:c.1650_1651delinsCG	ENSP00000514856.1:p.Val550=
ENST00000700203.1:n.1361_1362delinsCG
ENST00000380152.8:c.9234_9235delinsCG MANE Select	ENSP00000369497.3:p.Val3078=
ENST00000544455.6:c.9234_9235delinsCG	ENSP00000439902.1:p.Val3078=
ENST00000614259.2:c.9242_9243delinsCG	ENSP00000506251.1:n.9242_9243delinsCG
ENST00000665585.1:c.2112_2113delinsCG
ENST00000666593.1:c.117_118delinsCG	ENSP00000499256.1:p.Val39=
ENST00000680887.1:c.9234_9235delinsCG	ENSP00000505508.1:p.Val3078=
ENST00000380152.7:c.9234_9235delinsCG	ENSP00000369497.3:p.Val3078=
ENST00000470094.1:c.191_192delinsCG
ENST00000544455.5:c.9234_9235delinsCG	ENSP00000439902.1:p.Val3078=
NM_000059.3:c.9234_9235delinsCG , LRG_293t1:c.9234_9235delinsCG	NP_000050.2:p.Val3078=
XM_011535203.1:c.9234_9235delinsCG	XP_011533505.1:p.Val3078=
XM_011535204.1:c.9138_9139delinsCG	XP_011533506.1:p.Val3046=
NM_000059.4:c.9234_9235delinsCG MANE Select	NP_000050.3:p.Val3078=