Canonical Allele Identifier: CA2622600769

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32338075-G-GAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338075_32338076insAGA , CM000675.2:g.32338075_32338076insAGA	GRCh38
NC_000013.10:g.32912212_32912213insAGA , CM000675.1:g.32912212_32912213insAGA	GRCh37
NC_000013.9:g.31810212_31810213insAGA	NCBI36
NG_012772.3:g.27596_27597insAGA , LRG_293:g.27596_27597insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3720_3721insAGA	ENSP00000434898.2:p.Leu1240_Phe1241insArg
ENST00000528762.2:c.3720_3721insAGA	ENSP00000433168.2:p.Leu1240_Phe1241insArg
ENST00000530893.7:c.3351_3352insAGA	ENSP00000499438.2:p.Leu1117_Phe1118insArg
ENST00000665585.2:c.3720_3721insAGA	ENSP00000499570.2:p.Leu1240_Phe1241insArg
ENST00000666593.2:c.3720_3721insAGA	ENSP00000499256.2:p.Leu1240_Phe1241insArg
ENST00000700202.2:c.3720_3721insAGA	ENSP00000514856.2:p.Leu1240_Phe1241insArg
ENST00000380152.8:c.3720_3721insAGA MANE Select	ENSP00000369497.3:p.Leu1240_Phe1241insArg
ENST00000544455.6:c.3720_3721insAGA	ENSP00000439902.1:p.Leu1240_Phe1241insArg
ENST00000614259.2:c.3720_3721insAGA	ENSP00000506251.1:p.Leu1240_Phe1241insArg
ENST00000680887.1:c.3720_3721insAGA	ENSP00000505508.1:p.Leu1240_Phe1241insArg
ENST00000380152.7:c.3720_3721insAGA	ENSP00000369497.3:p.Leu1240_Phe1241insArg
ENST00000544455.5:c.3720_3721insAGA	ENSP00000439902.1:p.Leu1240_Phe1241insArg
ENST00000614259.1:n.3720_3721insAGA
NM_000059.3:c.3720_3721insAGA , LRG_293t1:c.3720_3721insAGA	NP_000050.2:p.Leu1240_Phe1241insArg
XM_011535203.1:c.3720_3721insAGA	XP_011533505.1:p.Leu1240_Phe1241insArg
XM_011535204.1:c.3720_3721insAGA	XP_011533506.1:p.Leu1240_Phe1241insArg
XM_011535205.1:c.3720_3721insAGA	XP_011533507.1:p.Leu1240_Phe1241insArg
NM_000059.4:c.3720_3721insAGA MANE Select	NP_000050.3:p.Leu1240_Phe1241insArg