Canonical Allele Identifier: CA10454504
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1201359
ClinVar RCV Id: RCV001566677
dbSNP Id: rs148649638
ExAC: X:73749016 C / A
gnomAD v2: X-73749016-C-A
gnomAD v3: X-74529181-C-A
gnomAD v4: X-74529181-C-A
MyVariant Identifiers: chrX:g.73749016C>A (hg19) chrX:g.74529181C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529181C>A , CM000685.2:g.74529181C>A GRCh38
NC_000023.10:g.73749016C>A , CM000685.1:g.73749016C>A GRCh37
NC_000023.9:g.73665741C>A NCBI36
NG_011641.1:g.112932C>A
NG_011641.2:g.112932C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1171-32C>A MANE Select ENSP00000465734.1:n.1171-32C>A
ENST00000636771.1:c.1080-32C>A
ENST00000587091.5:c.1171-32C>A ENSP00000465734.1:n.1171-32C>A
ENST00000590447.1:c.611-2152C>A
NM_006517.4:c.1171-32C>A NP_006508.2:n.1171-32C>A
XM_005262294.1:c.1171-2152C>A XP_005262351.1:n.1171-2152C>A
NM_006517.5:c.1171-32C>A MANE Select NP_006508.2:n.1171-32C>A
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