Canonical Allele Identifier: CA413655927
Gene: SLC16A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.73641644C>A (hg19) chrX:g.74421809C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421809C>A , CM000685.2:g.74421809C>A GRCh38
NC_000023.10:g.73641644C>A , CM000685.1:g.73641644C>A GRCh37
NC_000023.9:g.73558369C>A NCBI36
NG_011641.1:g.5560C>A
NG_011641.2:g.5560C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.172C>A MANE Select ENSP00000465734.1:p.Leu58Ile
ENST00000587091.5:c.172C>A ENSP00000465734.1:p.Leu58Ile
NM_006517.4:c.172C>A NP_006508.2:p.Leu58Ile
XM_005262294.1:c.172C>A XP_005262351.1:p.Leu58Ile
XM_011531015.1:c.172C>A XP_011529317.1:p.Leu58Ile
NM_006517.5:c.172C>A MANE Select NP_006508.2:p.Leu58Ile
Search 100 bp 5'
Search 100 bp 3'