Canonical Allele Identifier: CA2082835823

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379391_32379392delinsGA , CM000675.2:g.32379391_32379392delinsGA	GRCh38
NC_000013.10:g.32953528_32953529delinsGA , CM000675.1:g.32953528_32953529delinsGA	GRCh37
NC_000013.9:g.31851528_31851529delinsGA	NCBI36
NG_012772.3:g.68912_68913delinsGA , LRG_293:g.68912_68913delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8829_8830delinsGA	ENSP00000434898.2:p.Gln2943=
ENST00000528762.2:c.*196_*197delinsGA	ENSP00000433168.2:n.*196_*197delinsGA
ENST00000530893.7:c.8460_8461delinsGA	ENSP00000499438.2:p.Gln2820=
ENST00000665585.2:c.*391_*392delinsGA	ENSP00000499570.2:n.*391_*392delinsGA
ENST00000666593.2:c.8829_8830delinsGA	ENSP00000499256.2:p.Gln2943=
ENST00000700202.2:c.8829_8830delinsGA	ENSP00000514856.2:p.Gln2943=
ENST00000700202.1:c.1296_1297delinsGA	ENSP00000514856.1:p.Gln432=
ENST00000700203.1:n.956_957delinsGA
ENST00000380152.8:c.8829_8830delinsGA MANE Select	ENSP00000369497.3:p.Gln2943=
ENST00000544455.6:c.8829_8830delinsGA	ENSP00000439902.1:p.Gln2943=
ENST00000614259.2:c.8837_8838delinsGA	ENSP00000506251.1:n.8837_8838delinsGA
ENST00000665585.1:c.1707_1708delinsGA
ENST00000680887.1:c.8829_8830delinsGA	ENSP00000505508.1:p.Gln2943=
ENST00000380152.7:c.8829_8830delinsGA	ENSP00000369497.3:p.Gln2943=
ENST00000528762.1:c.391_392delinsGA	ENSP00000433168.1:n.391_392delinsGA
ENST00000544455.5:c.8829_8830delinsGA	ENSP00000439902.1:p.Gln2943=
NM_000059.3:c.8829_8830delinsGA , LRG_293t1:c.8829_8830delinsGA	NP_000050.2:p.Gln2943=
XM_011535203.1:c.8829_8830delinsGA	XP_011533505.1:p.Gln2943=
XM_011535204.1:c.8733_8734delinsGA	XP_011533506.1:p.Gln2911=
XM_011535205.1:c.8755-359_8755-358delinsGA	XP_011533507.1:n.8755-359_8755-358delinsG...
NM_000059.4:c.8829_8830delinsGA MANE Select	NP_000050.3:p.Gln2943=