Canonical Allele Identifier: CA382140812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78225122C>A , CM000673.2:g.78225122C>A GRCh38
NC_000011.9:g.77936168C>A , CM000673.1:g.77936168C>A GRCh37
NC_000011.8:g.77613816C>A NCBI36
NG_016171.1:g.197701G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361507.5:c.1288G>T (GAB2) MANE Select ENSP00000354952.4:p.Val430Phe
ENST00000340149.6:c.1174G>T (GAB2) ENSP00000343959.2:p.Val392Phe
ENST00000361507.4:c.1288G>T (GAB2) ENSP00000354952.4:p.Val430Phe
NM_012296.3:c.1174G>T (GAB2) NP_036428.1:p.Val392Phe
NM_080491.2:c.1288G>T (GAB2) NP_536739.1:p.Val430Phe
XM_006718753.1:c.1174G>T (GAB2) XP_006718816.1:p.Val392Phe
XM_011545408.1:c.628G>T (GAB2) XP_011543710.1:p.Val210Phe
XR_950117.1:n.1213G>T (GAB2)
XM_006718753.2:c.1174G>T (GAB2) XP_006718816.1:p.Val392Phe
XM_011545408.3:c.628G>T (GAB2) XP_011543710.1:p.Val210Phe
XM_024448782.1:c.1234G>T (GAB2) XP_024304550.1:p.Val412Phe
XR_001747928.1:n.3879C>A (USP35)
XR_001747930.1:n.4422C>A (USP35)
XR_001747931.1:n.3762C>A (USP35)
NM_080491.3:c.1288G>T (GAB2) MANE Select NP_536739.1:p.Val430Phe
NM_012296.4:c.1174G>T (GAB2) NP_036428.1:p.Val392Phe