Canonical Allele Identifier: CA341126
Gene: SLC16A2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.74531414T>C
GRCh37 chrX:g.73751249T>C
Revel Score:
ENST00000276033 0.790
ClinVar Allele:
26677
ClinVar RCV:
RCV000012404
ClinVar Variation:
11638
dbSNP:
104894938
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74531414T>C , CM000685.2:g.74531414T>C GRCh38
NC_000023.10:g.73751249T>C , CM000685.1:g.73751249T>C GRCh37
NC_000023.9:g.73667974T>C NCBI36
NG_011641.1:g.115165T>C
NG_011641.2:g.115165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1481T>C MANE Select ENSP00000465734.1:p.Leu494Pro
ENST00000636771.1:c.1390T>C
ENST00000587091.5:c.1481T>C ENSP00000465734.1:p.Leu494Pro
ENST00000590447.1:c.692T>C
NM_006517.4:c.1481T>C NP_006508.2:p.Leu494Pro
XM_005262294.1:c.*4T>C XP_005262351.1:n.*4T>C
NM_006517.5:c.1481T>C MANE Select NP_006508.2:p.Leu494Pro
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