Canonical Allele Identifier: CA413655908
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632344
ClinVar RCV Id: RCV003416768
MyVariant Identifiers: chrX:g.73641634G>T (hg19) chrX:g.74421799G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421799G>T , CM000685.2:g.74421799G>T GRCh38
NC_000023.10:g.73641634G>T , CM000685.1:g.73641634G>T GRCh37
NC_000023.9:g.73558359G>T NCBI36
NG_011641.1:g.5550G>T
NG_011641.2:g.5550G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.162G>T MANE Select ENSP00000465734.1:p.Glu54Asp
ENST00000587091.5:c.162G>T ENSP00000465734.1:p.Glu54Asp
NM_006517.4:c.162G>T NP_006508.2:p.Glu54Asp
XM_005262294.1:c.162G>T XP_005262351.1:p.Glu54Asp
XM_011531015.1:c.162G>T XP_011529317.1:p.Glu54Asp
NM_006517.5:c.162G>T MANE Select NP_006508.2:p.Glu54Asp
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