Canonical Allele Identifier: CA382140858

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78225132C>G , CM000673.2:g.78225132C>G GRCh38
NC_000011.9:g.77936178C>G , CM000673.1:g.77936178C>G GRCh37
NC_000011.8:g.77613826C>G NCBI36
NG_016171.1:g.197691G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361507.5:c.1278G>C (GAB2) MANE Select ENSP00000354952.4:p.Met426Ile
ENST00000340149.6:c.1164G>C (GAB2) ENSP00000343959.2:p.Met388Ile
ENST00000361507.4:c.1278G>C (GAB2) ENSP00000354952.4:p.Met426Ile
NM_012296.3:c.1164G>C (GAB2) NP_036428.1:p.Met388Ile
NM_080491.2:c.1278G>C (GAB2) NP_536739.1:p.Met426Ile
XM_006718753.1:c.1164G>C (GAB2) XP_006718816.1:p.Met388Ile
XM_011545408.1:c.618G>C (GAB2) XP_011543710.1:p.Met206Ile
XR_950117.1:n.1203G>C (GAB2)
XM_006718753.2:c.1164G>C (GAB2) XP_006718816.1:p.Met388Ile
XM_011545408.3:c.618G>C (GAB2) XP_011543710.1:p.Met206Ile
XM_024448782.1:c.1224G>C (GAB2) XP_024304550.1:p.Met408Ile
XR_001747928.1:n.3889C>G (USP35)
XR_001747930.1:n.4432C>G (USP35)
XR_001747931.1:n.3772C>G (USP35)
NM_080491.3:c.1278G>C (GAB2) MANE Select NP_536739.1:p.Met426Ile
NM_012296.4:c.1164G>C (GAB2) NP_036428.1:p.Met388Ile