Canonical Allele Identifier: CA413655936
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1928303162
gnomAD v4: X-74421813-C-T
MyVariant Identifiers: chrX:g.73641648C>T (hg19) chrX:g.74421813C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421813C>T , CM000685.2:g.74421813C>T GRCh38
NC_000023.10:g.73641648C>T , CM000685.1:g.73641648C>T GRCh37
NC_000023.9:g.73558373C>T NCBI36
NG_011641.1:g.5564C>T
NG_011641.2:g.5564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.176C>T MANE Select ENSP00000465734.1:p.Pro59Leu
ENST00000587091.5:c.176C>T ENSP00000465734.1:p.Pro59Leu
NM_006517.4:c.176C>T NP_006508.2:p.Pro59Leu
XM_005262294.1:c.176C>T XP_005262351.1:p.Pro59Leu
XM_011531015.1:c.176C>T XP_011529317.1:p.Pro59Leu
NM_006517.5:c.176C>T MANE Select NP_006508.2:p.Pro59Leu
Search 100 bp 5'
Search 100 bp 3'