Canonical Allele Identifier: CA2622600197

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32331143-CTGCCTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331147_32331155del , CM000675.2:g.32331147_32331155del	GRCh38
NC_000013.10:g.32905284_32905292del , CM000675.1:g.32905284_32905292del	GRCh37
NC_000013.9:g.31803284_31803292del	NCBI36
NG_012772.3:g.20668_20676del , LRG_293:g.20668_20676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.793+117_793+125del	ENSP00000434898.2:n.793+117_793+125del
ENST00000528762.2:c.793+117_793+125del	ENSP00000433168.2:n.793+117_793+125del
ENST00000530893.7:c.424+117_424+125del	ENSP00000499438.2:n.424+117_424+125del
ENST00000665585.2:c.793+117_793+125del	ENSP00000499570.2:n.793+117_793+125del
ENST00000666593.2:c.793+117_793+125del	ENSP00000499256.2:n.793+117_793+125del
ENST00000700202.2:c.793+117_793+125del	ENSP00000514856.2:n.793+117_793+125del
ENST00000700201.1:c.*572+117_*572+125del	ENSP00000514855.1:n.*572+117_*572+125del
ENST00000380152.8:c.793+117_793+125del MANE Select	ENSP00000369497.3:n.793+117_793+125del
ENST00000544455.6:c.793+117_793+125del	ENSP00000439902.1:n.793+117_793+125del
ENST00000614259.2:c.793+117_793+125del	ENSP00000506251.1:n.793+117_793+125del
ENST00000680887.1:c.793+117_793+125del	ENSP00000505508.1:n.793+117_793+125del
ENST00000380152.7:c.793+117_793+125del	ENSP00000369497.3:n.793+117_793+125del
ENST00000530893.6:n.991+117_991+125del
ENST00000544455.5:c.793+117_793+125del	ENSP00000439902.1:n.793+117_793+125del
ENST00000614259.1:n.793+117_793+125del
NM_000059.3:c.793+117_793+125del , LRG_293t1:c.793+117_793+125del	NP_000050.2:n.793+117_793+125del
XM_011535203.1:c.793+117_793+125del	XP_011533505.1:n.793+117_793+125del
XM_011535204.1:c.793+117_793+125del	XP_011533506.1:n.793+117_793+125del
XM_011535205.1:c.793+117_793+125del	XP_011533507.1:n.793+117_793+125del
NM_000059.4:c.793+117_793+125del MANE Select	NP_000050.3:n.793+117_793+125del