Canonical Allele Identifier: CA2590967510

Gene: BRCA2

Linked Data

• dbSNP Id: rs1473275600
• gnomAD v3: 13-32398053-CTG-C
• gnomAD v4: 13-32398053-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398059_32398060del , CM000675.2:g.32398059_32398060del	GRCh38
NC_000013.10:g.32972196_32972197del , CM000675.1:g.32972196_32972197del	GRCh37
NC_000013.9:g.31870196_31870197del	NCBI36
NG_012772.3:g.87580_87581del , LRG_293:g.87580_87581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*172-103_*172-102del	ENSP00000434898.2:n.*172-103_*172-102del
ENST00000528762.2:c.*1016-103_*1016-102del	ENSP00000433168.2:n.*1016-103_*1016-102del
ENST00000530893.7:c.9280-103_9280-102del	ENSP00000499438.2:n.9280-103_9280-102del
ENST00000665585.2:c.*1211-103_*1211-102del	ENSP00000499570.2:n.*1211-103_*1211-102del
ENST00000700202.2:c.9598-103_9598-102del	ENSP00000514856.2:n.9598-103_9598-102del
ENST00000700202.1:c.2065-103_2065-102del	ENSP00000514856.1:n.2065-103_2065-102del
ENST00000700203.1:n.1776-103_1776-102del
ENST00000380152.8:c.9649-103_9649-102del MANE Select	ENSP00000369497.3:n.9649-103_9649-102del
ENST00000544455.6:c.9649-103_9649-102del	ENSP00000439902.1:n.9649-103_9649-102del
ENST00000614259.2:c.9657-103_9657-102del	ENSP00000506251.1:n.9657-103_9657-102del
ENST00000665585.1:c.2527-103_2527-102del
ENST00000680887.1:c.9649-103_9649-102del	ENSP00000505508.1:n.9649-103_9649-102del
ENST00000380152.7:c.9649-103_9649-102del	ENSP00000369497.3:n.9649-103_9649-102del
ENST00000470094.1:c.732-103_732-102del
ENST00000533776.1:n.237-103_237-102del
ENST00000544455.5:c.9649-103_9649-102del	ENSP00000439902.1:n.9649-103_9649-102del
NM_000059.3:c.9649-103_9649-102del , LRG_293t1:c.9649-103_9649-102del	NP_000050.2:n.9649-103_9649-102del
XM_011535203.1:c.9649-103_9649-102del	XP_011533505.1:n.9649-103_9649-102del
XM_011535204.1:c.9553-103_9553-102del	XP_011533506.1:n.9553-103_9553-102del
NM_000059.4:c.9649-103_9649-102del MANE Select	NP_000050.3:n.9649-103_9649-102del