Canonical Allele Identifier: CA713512783
Gene: SLC27A2 HGNC NCBI

Linked Data

dbSNP Id: rs1452359839
gnomAD v3: 15-50217341-G-A
gnomAD v4: 15-50217341-G-A
MyVariant Identifiers: chr15:g.50509538G>A (hg19) chr15:g.50217341G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50217341G>A , CM000677.2:g.50217341G>A GRCh38
NC_000015.9:g.50509538G>A , CM000677.1:g.50509538G>A GRCh37
NC_000015.8:g.48296830G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000267842.10:c.973-5624G>A MANE Select ENSP00000267842.5:n.973-5624G>A
ENST00000267842.9:c.973-5624G>A ENSP00000267842.5:n.973-5624G>A
ENST00000380902.8:c.814-5624G>A ENSP00000370289.4:n.814-5624G>A
ENST00000544960.1:c.268-5624G>A ENSP00000444549.1:n.268-5624G>A
ENST00000559938.1:n.12-5624G>A
NM_001159629.1:c.814-5624G>A NP_001153101.1:n.814-5624G>A
NM_003645.3:c.973-5624G>A NP_003636.2:n.973-5624G>A
NM_003645.4:c.973-5624G>A MANE Select NP_003636.2:n.973-5624G>A
NM_001159629.2:c.814-5624G>A NP_001153101.1:n.814-5624G>A
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