Canonical Allele Identifier: CA355485913
Gene: SLC2A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170998315T>C , CM000665.2:g.170998315T>C GRCh38
NC_000003.11:g.170716104T>C , CM000665.1:g.170716104T>C GRCh37
NC_000003.10:g.172198798T>C NCBI36
NG_008108.1:g.33665A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000314251.8:c.1252A>G MANE Select ENSP00000323568.3:p.Ile418Val
ENST00000314251.7:c.1252A>G ENSP00000323568.3:p.Ile418Val
ENST00000469787.1:c.*719A>G ENSP00000417918.1:n.*719A>G
ENST00000497642.5:c.*719A>G ENSP00000418456.1:n.*719A>G
NM_000340.1:c.1252A>G NP_000331.1:p.Ile418Val
NM_001278658.1:c.895A>G NP_001265587.1:p.Ile299Val
NM_001278659.1:c.733A>G NP_001265588.1:p.Ile245Val
XM_011513087.1:c.1207A>G XP_011511389.1:p.Ile403Val
XM_011513088.1:c.1033A>G XP_011511390.1:p.Ile345Val
XM_011513089.1:c.733A>G XP_011511391.1:p.Ile245Val
XM_011513087.2:c.1207A>G XP_011511389.1:p.Ile403Val
XM_024453720.1:c.733A>G XP_024309488.1:p.Ile245Val
NM_000340.2:c.1252A>G MANE Select NP_000331.1:p.Ile418Val
NM_001278658.2:c.895A>G NP_001265587.1:p.Ile299Val
NM_001278659.2:c.733A>G NP_001265588.1:p.Ile245Val