Canonical Allele Identifier: CA954698636

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073047338
• gnomAD v3: 13-32397959-C-A
• gnomAD v4: 13-32397959-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397959C>A , CM000675.2:g.32397959C>A	GRCh38
NC_000013.10:g.32972096C>A , CM000675.1:g.32972096C>A	GRCh37
NC_000013.9:g.31870096C>A	NCBI36
NG_012772.3:g.87480C>A , LRG_293:g.87480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*172-203C>A	ENSP00000434898.2:n.*172-203C>A
ENST00000528762.2:c.*1016-203C>A	ENSP00000433168.2:n.*1016-203C>A
ENST00000530893.7:c.9280-203C>A	ENSP00000499438.2:n.9280-203C>A
ENST00000665585.2:c.*1211-203C>A	ENSP00000499570.2:n.*1211-203C>A
ENST00000700202.2:c.9598-203C>A	ENSP00000514856.2:n.9598-203C>A
ENST00000700202.1:c.2065-203C>A	ENSP00000514856.1:n.2065-203C>A
ENST00000700203.1:n.1776-203C>A
ENST00000380152.8:c.9649-203C>A MANE Select	ENSP00000369497.3:n.9649-203C>A
ENST00000544455.6:c.9649-203C>A	ENSP00000439902.1:n.9649-203C>A
ENST00000614259.2:c.9657-203C>A	ENSP00000506251.1:n.9657-203C>A
ENST00000665585.1:c.2527-203C>A
ENST00000680887.1:c.9649-203C>A	ENSP00000505508.1:n.9649-203C>A
ENST00000380152.7:c.9649-203C>A	ENSP00000369497.3:n.9649-203C>A
ENST00000470094.1:c.732-203C>A
ENST00000533776.1:n.237-203C>A
ENST00000544455.5:c.9649-203C>A	ENSP00000439902.1:n.9649-203C>A
NM_000059.3:c.9649-203C>A , LRG_293t1:c.9649-203C>A	NP_000050.2:n.9649-203C>A
XM_011535203.1:c.9649-203C>A	XP_011533505.1:n.9649-203C>A
XM_011535204.1:c.9553-203C>A	XP_011533506.1:n.9553-203C>A
NM_000059.4:c.9649-203C>A MANE Select	NP_000050.3:n.9649-203C>A