Canonical Allele Identifier: CA2499222372

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1171468
• ClinVar RCV Id: RCV001524638
• dbSNP Id: rs2137625898

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380141_32380142delinsG , CM000675.2:g.32380141_32380142delinsG	GRCh38
NC_000013.10:g.32954278_32954279delinsG , CM000675.1:g.32954278_32954279delinsG	GRCh37
NC_000013.9:g.31852278_31852279delinsG	NCBI36
NG_012772.3:g.69662_69663delinsG , LRG_293:g.69662_69663delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9252_9253delinsG	ENSP00000434898.2:p.Thr3085GlnfsTer19
ENST00000528762.2:c.*619_*620delinsG	ENSP00000433168.2:n.*619_*620delinsG
ENST00000530893.7:c.8883_8884delinsG	ENSP00000499438.2:p.Thr2962GlnfsTer19
ENST00000665585.2:c.*814_*815delinsG	ENSP00000499570.2:n.*814_*815delinsG
ENST00000666593.2:c.9252_9253delinsG	ENSP00000499256.2:p.Thr3085GlnfsTer2
ENST00000700202.2:c.9201_9202delinsG	ENSP00000514856.2:p.Thr3068GlnfsTer19
ENST00000700202.1:c.1668_1669delinsG	ENSP00000514856.1:p.Thr557GlnfsTer19
ENST00000700203.1:n.1379_1380delinsG
ENST00000380152.8:c.9252_9253delinsG MANE Select	ENSP00000369497.3:p.Thr3085GlnfsTer19
ENST00000544455.6:c.9252_9253delinsG	ENSP00000439902.1:p.Thr3085GlnfsTer19
ENST00000614259.2:c.9260_9261delinsG	ENSP00000506251.1:n.9260_9261delinsG
ENST00000665585.1:c.2130_2131delinsG
ENST00000666593.1:c.135_136delinsG	ENSP00000499256.1:p.Thr46GlnfsTer2
ENST00000680887.1:c.9252_9253delinsG	ENSP00000505508.1:p.Thr3085GlnfsTer19
ENST00000380152.7:c.9252_9253delinsG	ENSP00000369497.3:p.Thr3085GlnfsTer19
ENST00000470094.1:c.209_210delinsG
ENST00000544455.5:c.9252_9253delinsG	ENSP00000439902.1:p.Thr3085GlnfsTer19
NM_000059.3:c.9252_9253delinsG , LRG_293t1:c.9252_9253delinsG	NP_000050.2:p.Thr3085GlnfsTer19
XM_011535203.1:c.9252_9253delinsG	XP_011533505.1:p.Thr3085GlnfsTer19
XM_011535204.1:c.9156_9157delinsG	XP_011533506.1:p.Thr3053GlnfsTer19
NM_000059.4:c.9252_9253delinsG MANE Select	NP_000050.3:p.Thr3085GlnfsTer19