Canonical Allele Identifier: CA14144386
Gene: SLC27A2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs12913823

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50217394C>T , CM000677.2:g.50217394C>T GRCh38
NC_000015.9:g.50509591C>T , CM000677.1:g.50509591C>T GRCh37
NC_000015.8:g.48296883C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001159629.1:c.814-5571C>T VV NP_001153101.1:p.=
NM_003645.3:c.973-5571C>T VV NP_003636.2:p.=
NM_003645.4:c.973-5571C>T VV MANE Preferred NP_003636.2:p.=
ENST00000267842.9:c.973-5571C>T ENSP00000267842.5:p.=
ENST00000380902.8:c.814-5571C>T ENSP00000370289.4:p.=
ENST00000544960.1:c.268-5571C>T ENSP00000444549.1:p.=
ENST00000559938.1:n.12-5571C>T