Canonical Allele Identifier: CA382140856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78225131T>G , CM000673.2:g.78225131T>G GRCh38
NC_000011.9:g.77936177T>G , CM000673.1:g.77936177T>G GRCh37
NC_000011.8:g.77613825T>G NCBI36
NG_016171.1:g.197692A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361507.5:c.1279A>C (GAB2) MANE Select ENSP00000354952.4:p.Ser427Arg
ENST00000340149.6:c.1165A>C (GAB2) ENSP00000343959.2:p.Ser389Arg
ENST00000361507.4:c.1279A>C (GAB2) ENSP00000354952.4:p.Ser427Arg
NM_012296.3:c.1165A>C (GAB2) NP_036428.1:p.Ser389Arg
NM_080491.2:c.1279A>C (GAB2) NP_536739.1:p.Ser427Arg
XM_006718753.1:c.1165A>C (GAB2) XP_006718816.1:p.Ser389Arg
XM_011545408.1:c.619A>C (GAB2) XP_011543710.1:p.Ser207Arg
XR_950117.1:n.1204A>C (GAB2)
XM_006718753.2:c.1165A>C (GAB2) XP_006718816.1:p.Ser389Arg
XM_011545408.3:c.619A>C (GAB2) XP_011543710.1:p.Ser207Arg
XM_024448782.1:c.1225A>C (GAB2) XP_024304550.1:p.Ser409Arg
XR_001747928.1:n.3888T>G (USP35)
XR_001747930.1:n.4431T>G (USP35)
XR_001747931.1:n.3771T>G (USP35)
NM_080491.3:c.1279A>C (GAB2) MANE Select NP_536739.1:p.Ser427Arg
NM_012296.4:c.1165A>C (GAB2) NP_036428.1:p.Ser389Arg