Canonical Allele Identifier: CA413656064
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1006597718
gnomAD v2: X-73641707-C-T
gnomAD v4: X-74421872-C-T
MyVariant Identifiers: chrX:g.73641707C>T (hg19) chrX:g.74421872C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421872C>T , CM000685.2:g.74421872C>T GRCh38
NC_000023.10:g.73641707C>T , CM000685.1:g.73641707C>T GRCh37
NC_000023.9:g.73558432C>T NCBI36
NG_011641.1:g.5623C>T
NG_011641.2:g.5623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.235C>T MANE Select ENSP00000465734.1:p.Pro79Ser
ENST00000587091.5:c.235C>T ENSP00000465734.1:p.Pro79Ser
NM_006517.4:c.235C>T NP_006508.2:p.Pro79Ser
XM_005262294.1:c.235C>T XP_005262351.1:p.Pro79Ser
XM_011531015.1:c.235C>T XP_011529317.1:p.Pro79Ser
NM_006517.5:c.235C>T MANE Select NP_006508.2:p.Pro79Ser
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