Canonical Allele Identifier: CA13464998
Gene: GAB2 HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78268783A>G , CM000673.2:g.78268783A>G GRCh38
NC_000011.9:g.77979829A>G , CM000673.1:g.77979829A>G GRCh37
NC_000011.8:g.77657477A>G NCBI36
NG_016171.1:g.154040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361507.5:c.376+11818T>C MANE Select ENSP00000354952.4:n.376+11818T>C
ENST00000340149.6:c.262+11818T>C ENSP00000343959.2:n.262+11818T>C
ENST00000361507.4:c.376+11818T>C ENSP00000354952.4:n.376+11818T>C
ENST00000526030.1:n.555+11818T>C
ENST00000528886.5:c.262+11818T>C ENSP00000433762.1:n.262+11818T>C
ENST00000530915.1:c.262+11818T>C ENSP00000431868.1:n.262+11818T>C
NM_012296.3:c.262+11818T>C NP_036428.1:n.262+11818T>C
NM_080491.2:c.376+11818T>C NP_536739.1:n.376+11818T>C
XM_006718753.1:c.262+11818T>C XP_006718816.1:n.262+11818T>C
XM_011545408.1:c.-41+11818T>C XP_011543710.1:n.-41+11818T>C
XR_950117.1:n.301+11818T>C
XM_006718753.2:c.262+11818T>C XP_006718816.1:n.262+11818T>C
XM_011545408.3:c.-41+11818T>C XP_011543710.1:n.-41+11818T>C
XM_024448782.1:c.322+11818T>C XP_024304550.1:n.322+11818T>C
NM_080491.3:c.376+11818T>C MANE Select NP_536739.1:n.376+11818T>C
NM_012296.4:c.262+11818T>C NP_036428.1:n.262+11818T>C