Canonical Allele Identifier: CA355481286
Community Standard Title: NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg)
Gene: SLC2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.171026669A>C , CM000665.2:g.171026669A>C GRCh38
NC_000003.11:g.170744458A>C , CM000665.1:g.170744458A>C GRCh37
NC_000003.10:g.172227152A>C NCBI36
NG_008108.1:g.5311T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000340.2:c.2T>G MANE Select NP_000331.1:p.Met1Arg
ENST00000314251.8:c.2T>G MANE Select ENSP00000323568.3:p.Met1Arg
NM_000340.1:c.2T>G NP_000331.1:p.Met1Arg
NM_001278658.1:c.-93T>G NP_001265587.1:n.-93T>G
NM_001278658.2:c.-93T>G NP_001265587.1:n.-93T>G
NM_001278659.1:c.-393T>G NP_001265588.1:n.-393T>G
NM_001278659.2:c.-393T>G NP_001265588.1:n.-393T>G
ENST00000314251.7:c.2T>G ENSP00000323568.3:p.Met1Arg
ENST00000469787.1:c.2T>G ENSP00000417918.1:p.Met1Arg
ENST00000497642.5:c.2T>G ENSP00000418456.1:p.Met1Arg
XM_011513087.1:c.-93T>G XP_011511389.1:n.-93T>G
XM_011513087.2:c.-93T>G XP_011511389.1:n.-93T>G
XM_024453720.1:c.-130T>G XP_024309488.1:n.-130T>G