Canonical Allele Identifier: CA3063903197
Community Standard Title: NM_000059.4(BRCA2):c.4272_4273delinsGA (p.Asp1425Asn)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338627_32338628delinsGA , CM000675.2:g.32338627_32338628delinsGA GRCh38
NC_000013.10:g.32912764_32912765delinsGA , CM000675.1:g.32912764_32912765delinsGA GRCh37
NC_000013.9:g.31810764_31810765delinsGA NCBI36
NG_012772.3:g.28148_28149delinsGA , LRG_293:g.28148_28149delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.4272_4273delinsGA MANE Select NP_000050.3:p.Asp1425Asn
ENST00000380152.8:c.4272_4273delinsGA MANE Select ENSP00000369497.3:p.Asp1425Asn
NM_000059.3:c.4272_4273delinsGA , LRG_293t1:c.4272_4273delinsGA NP_000050.2:p.Asp1425Asn
ENST00000380152.7:c.4272_4273delinsGA ENSP00000369497.3:p.Asp1425Asn
ENST00000470094.2:c.4272_4273delinsGA ENSP00000434898.2:p.Asp1425Asn
ENST00000528762.2:c.4272_4273delinsGA ENSP00000433168.2:p.Asp1425Asn
ENST00000530893.7:c.3903_3904delinsGA ENSP00000499438.2:p.Asp1302Asn
ENST00000544455.5:c.4272_4273delinsGA ENSP00000439902.1:p.Asp1425Asn
ENST00000544455.6:c.4272_4273delinsGA ENSP00000439902.1:p.Asp1425Asn
ENST00000614259.1:n.4272_4273delinsGA
ENST00000614259.2:c.4272_4273delinsGA ENSP00000506251.1:p.Asp1425Asn
ENST00000665585.2:c.4272_4273delinsGA ENSP00000499570.2:p.Asp1425Asn
ENST00000666593.2:c.4272_4273delinsGA ENSP00000499256.2:p.Asp1425Asn
ENST00000680887.1:c.4272_4273delinsGA ENSP00000505508.1:p.Asp1425Asn
ENST00000700202.2:c.4272_4273delinsGA ENSP00000514856.2:p.Asp1425Asn
XM_011535203.1:c.4272_4273delinsGA XP_011533505.1:p.Asp1425Asn
XM_011535204.1:c.4272_4273delinsGA XP_011533506.1:p.Asp1425Asn
XM_011535205.1:c.4272_4273delinsGA XP_011533507.1:p.Asp1425Asn