Canonical Allele Identifier: CA1984619764
Community Standard Title: NM_080491.3(GAB2):c.376+1387C=
Gene: GAB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78279214G= , CM000673.2:g.78279214G= GRCh38
NC_000011.9:g.77990260G= , CM000673.1:g.77990260G= GRCh37
NC_000011.8:g.77667908G= NCBI36
NG_016171.1:g.143609C=

Transcript Alleles

HGVS Amino-acid Change
NM_080491.3:c.376+1387C= MANE Select NP_536739.1:n.376+1387C=
ENST00000361507.5:c.376+1387C= MANE Select ENSP00000354952.4:n.376+1387C=
NM_012296.3:c.262+1387C= NP_036428.1:n.262+1387C=
NM_012296.4:c.262+1387C= NP_036428.1:n.262+1387C=
NM_080491.2:c.376+1387C= NP_536739.1:n.376+1387C=
ENST00000340149.6:c.262+1387C= ENSP00000343959.2:n.262+1387C=
ENST00000361507.4:c.376+1387C= ENSP00000354952.4:n.376+1387C=
ENST00000526030.1:n.555+1387C=
ENST00000528886.5:c.262+1387C= ENSP00000433762.1:n.262+1387C=
ENST00000530915.1:c.262+1387C= ENSP00000431868.1:n.262+1387C=
XM_006718753.1:c.262+1387C= XP_006718816.1:n.262+1387C=
XM_006718753.2:c.262+1387C= XP_006718816.1:n.262+1387C=
XM_011545408.1:c.-41+1387C= XP_011543710.1:n.-41+1387C=
XM_011545408.3:c.-41+1387C= XP_011543710.1:n.-41+1387C=
XM_024448782.1:c.322+1387C= XP_024304550.1:n.322+1387C=
XR_950117.1:n.301+1387C=