Canonical Allele Identifier: CA2702453
Community Standard Title: NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.170998362A>G , CM000665.2:g.170998362A>G GRCh38
NC_000003.11:g.170716151A>G , CM000665.1:g.170716151A>G GRCh37
NC_000003.10:g.172198845A>G NCBI36
NG_008108.1:g.33618T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.1205T>C MANE Select NP_000331.1:p.Ile402Thr
ENST00000314251.8:c.1205T>C MANE Select ENSP00000323568.3:p.Ile402Thr
NM_000340.1:c.1205T>C NP_000331.1:p.Ile402Thr
NM_001278658.1:c.848T>C NP_001265587.1:p.Ile283Thr
NM_001278658.2:c.848T>C NP_001265587.1:p.Ile283Thr
NM_001278659.1:c.686T>C NP_001265588.1:p.Ile229Thr
NM_001278659.2:c.686T>C NP_001265588.1:p.Ile229Thr
ENST00000314251.7:c.1205T>C ENSP00000323568.3:p.Ile402Thr
ENST00000469787.1:c.*672T>C ENSP00000417918.1:n.*672T>C
ENST00000497642.5:c.*672T>C ENSP00000418456.1:n.*672T>C
XM_011513087.1:c.1160T>C XP_011511389.1:p.Ile387Thr
XM_011513087.2:c.1160T>C XP_011511389.1:p.Ile387Thr
XM_011513088.1:c.986T>C XP_011511390.1:p.Ile329Thr
XM_011513089.1:c.686T>C XP_011511391.1:p.Ile229Thr
XM_024453720.1:c.686T>C XP_024309488.1:p.Ile229Thr