Canonical Allele Identifier: CA642553576
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1219564355
gnomAD v2: X-73745580-T-C
MyVariant Identifiers: chrX:g.73745580T>C (hg19) chrX:g.74525745T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74525745T>C , CM000685.2:g.74525745T>C GRCh38
NC_000023.10:g.73745580T>C , CM000685.1:g.73745580T>C GRCh37
NC_000023.9:g.73662305T>C NCBI36
NG_011641.1:g.109496T>C
NG_011641.2:g.109496T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.1027-5T>C MANE Select ENSP00000465734.1:n.1027-5T>C
ENST00000636771.1:c.936-5T>C
ENST00000587091.5:c.1027-5T>C ENSP00000465734.1:n.1027-5T>C
ENST00000590447.1:c.467-5T>C
NM_006517.4:c.1027-5T>C NP_006508.2:n.1027-5T>C
XM_005262294.1:c.1027-5T>C XP_005262351.1:n.1027-5T>C
XM_011531015.1:c.*31-5T>C XP_011529317.1:n.*31-5T>C
NM_006517.5:c.1027-5T>C MANE Select NP_006508.2:n.1027-5T>C
Search 100 bp 5'
Search 100 bp 3'