Canonical Allele Identifier: CA413655883
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2730925
ClinVar RCV Id: RCV003588331
dbSNP Id: rs1928302454
gnomAD v4: X-74421788-C-T
MyVariant Identifiers: chrX:g.73641623C>T (hg19) chrX:g.74421788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421788C>T , CM000685.2:g.74421788C>T GRCh38
NC_000023.10:g.73641623C>T , CM000685.1:g.73641623C>T GRCh37
NC_000023.9:g.73558348C>T NCBI36
NG_011641.1:g.5539C>T
NG_011641.2:g.5539C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.151C>T MANE Select ENSP00000465734.1:p.Pro51Ser
ENST00000587091.5:c.151C>T ENSP00000465734.1:p.Pro51Ser
NM_006517.4:c.151C>T NP_006508.2:p.Pro51Ser
XM_005262294.1:c.151C>T XP_005262351.1:p.Pro51Ser
XM_011531015.1:c.151C>T XP_011529317.1:p.Pro51Ser
NM_006517.5:c.151C>T MANE Select NP_006508.2:p.Pro51Ser
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