Canonical Allele Identifier: CA355491582
Community Standard Title: NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171009980T>G , CM000665.2:g.171009980T>G GRCh38
NC_000003.11:g.170727769T>G , CM000665.1:g.170727769T>G GRCh37
NC_000003.10:g.172210463T>G NCBI36
NG_008108.1:g.22000A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.474A>C MANE Select NP_000331.1:p.Arg158Ser
ENST00000314251.8:c.474A>C MANE Select ENSP00000323568.3:p.Arg158Ser
NM_000340.1:c.474A>C NP_000331.1:p.Arg158Ser
NM_001278658.1:c.117A>C NP_001265587.1:p.Arg39Ser
NM_001278658.2:c.117A>C NP_001265587.1:p.Arg39Ser
NM_001278659.1:c.-23-2717A>C NP_001265588.1:n.-23-2717A>C
NM_001278659.2:c.-23-2717A>C NP_001265588.1:n.-23-2717A>C
ENST00000314251.7:c.474A>C ENSP00000323568.3:p.Arg158Ser
ENST00000461867.1:c.-23-2717A>C ENSP00000418888.1:n.-23-2717A>C
ENST00000469787.1:c.211A>C ENSP00000417918.1:p.Lys71Gln
ENST00000497642.5:c.372-2717A>C ENSP00000418456.1:n.372-2717A>C
XM_011513087.1:c.429A>C XP_011511389.1:p.Arg143Ser
XM_011513087.2:c.429A>C XP_011511389.1:p.Arg143Ser
XM_011513088.1:c.255A>C XP_011511390.1:p.Arg85Ser
XM_011513089.1:c.-23-2717A>C XP_011511391.1:n.-23-2717A>C
XM_024453720.1:c.-23-2717A>C XP_024309488.1:n.-23-2717A>C