Canonical Allele Identifier: CA413655987
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 861274
ClinVar RCV Id: RCV001067766
dbSNP Id: rs1034820850
gnomAD v4: X-74421839-G-T
MyVariant Identifiers: chrX:g.73641674G>T (hg19) chrX:g.74421839G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421839G>T , CM000685.2:g.74421839G>T GRCh38
NC_000023.10:g.73641674G>T , CM000685.1:g.73641674G>T GRCh37
NC_000023.9:g.73558399G>T NCBI36
NG_011641.1:g.5590G>T
NG_011641.2:g.5590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.202G>T MANE Select ENSP00000465734.1:p.Glu68Ter
ENST00000587091.5:c.202G>T ENSP00000465734.1:p.Glu68Ter
NM_006517.4:c.202G>T NP_006508.2:p.Glu68Ter
XM_005262294.1:c.202G>T XP_005262351.1:p.Glu68Ter
XM_011531015.1:c.202G>T XP_011529317.1:p.Glu68Ter
NM_006517.5:c.202G>T MANE Select NP_006508.2:p.Glu68Ter
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