Canonical Allele Identifier: CA913188572

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 923820
• ClinVar RCV Id: RCV001184833 ; RCV001876156
• dbSNP Id: rs2072560950

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340980_32340981delinsGA , CM000675.2:g.32340980_32340981delinsGA	GRCh38
NC_000013.10:g.32915117_32915118delinsGA , CM000675.1:g.32915117_32915118delinsGA	GRCh37
NC_000013.9:g.31813117_31813118delinsGA	NCBI36
NG_012772.3:g.30501_30502delinsGA , LRG_293:g.30501_30502delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6625_6626delinsGA	ENSP00000434898.2:p.Ile2209Glu
ENST00000528762.2:c.6625_6626delinsGA	ENSP00000433168.2:p.Ile2209Glu
ENST00000530893.7:c.6256_6257delinsGA	ENSP00000499438.2:p.Ile2086Glu
ENST00000665585.2:c.6625_6626delinsGA	ENSP00000499570.2:p.Ile2209Glu
ENST00000666593.2:c.6625_6626delinsGA	ENSP00000499256.2:p.Ile2209Glu
ENST00000700202.2:c.6625_6626delinsGA	ENSP00000514856.2:p.Ile2209Glu
ENST00000380152.8:c.6625_6626delinsGA MANE Select	ENSP00000369497.3:p.Ile2209Glu
ENST00000544455.6:c.6625_6626delinsGA	ENSP00000439902.1:p.Ile2209Glu
ENST00000614259.2:c.6625_6626delinsGA	ENSP00000506251.1:p.Ile2209Glu
ENST00000680887.1:c.6625_6626delinsGA	ENSP00000505508.1:p.Ile2209Glu
ENST00000380152.7:c.6625_6626delinsGA	ENSP00000369497.3:p.Ile2209Glu
ENST00000544455.5:c.6625_6626delinsGA	ENSP00000439902.1:p.Ile2209Glu
ENST00000614259.1:n.6625_6626delinsGA
NM_000059.3:c.6625_6626delinsGA , LRG_293t1:c.6625_6626delinsGA	NP_000050.2:p.Ile2209Glu
XM_011535203.1:c.6625_6626delinsGA	XP_011533505.1:p.Ile2209Glu
XM_011535204.1:c.6625_6626delinsGA	XP_011533506.1:p.Ile2209Glu
XM_011535205.1:c.6625_6626delinsGA	XP_011533507.1:p.Ile2209Glu
NM_000059.4:c.6625_6626delinsGA MANE Select	NP_000050.3:p.Ile2209Glu