Canonical Allele Identifier: CA413659004
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 572519
ClinVar RCV Id: RCV000693919
dbSNP Id: rs104894938
MyVariant Identifiers: chrX:g.73751249T>G (hg19) chrX:g.74531414T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.1481T>G MANE Select ENSP00000465734.1:p.Leu494Arg
ENST00000636771.1:c.1390T>G
ENST00000587091.5:c.1481T>G ENSP00000465734.1:p.Leu494Arg
ENST00000590447.1:c.692T>G
NM_006517.4:c.1481T>G NP_006508.2:p.Leu494Arg
XM_005262294.1:c.*4T>G XP_005262351.1:n.*4T>G
NM_006517.5:c.1481T>G MANE Select NP_006508.2:p.Leu494Arg
Search 100 bp 5'
Search 100 bp 3'