Canonical Allele Identifier: CA270455948

Gene: SLC27A2

Linked Data

• dbSNP Id: rs1033516715
• gnomAD v2: 15-50509626-C-T
• gnomAD v3: 15-50217429-C-T
• gnomAD v4: 15-50217429-C-T
• MyVariant Identifiers: chr15:g.50509626C>T (hg19) ; chr15:g.50217429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50217429C>T , CM000677.2:g.50217429C>T	GRCh38
NC_000015.9:g.50509626C>T , CM000677.1:g.50509626C>T	GRCh37
NC_000015.8:g.48296918C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000267842.10:c.973-5536C>T MANE Select	ENSP00000267842.5:n.973-5536C>T
ENST00000267842.9:c.973-5536C>T	ENSP00000267842.5:n.973-5536C>T
ENST00000380902.8:c.814-5536C>T	ENSP00000370289.4:n.814-5536C>T
ENST00000544960.1:c.268-5536C>T	ENSP00000444549.1:n.268-5536C>T
ENST00000559938.1:n.12-5536C>T
NM_001159629.1:c.814-5536C>T	NP_001153101.1:n.814-5536C>T
NM_003645.3:c.973-5536C>T	NP_003636.2:n.973-5536C>T
NM_003645.4:c.973-5536C>T MANE Select	NP_003636.2:n.973-5536C>T
NM_001159629.2:c.814-5536C>T	NP_001153101.1:n.814-5536C>T