Canonical Allele Identifier: CA413656097
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1339023960
gnomAD v2: X-73641724-G-T
gnomAD v4: X-74421889-G-T
MyVariant Identifiers: chrX:g.73641724G>T (hg19) chrX:g.74421889G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421889G>T , CM000685.2:g.74421889G>T GRCh38
NC_000023.10:g.73641724G>T , CM000685.1:g.73641724G>T GRCh37
NC_000023.9:g.73558449G>T NCBI36
NG_011641.1:g.5640G>T
NG_011641.2:g.5640G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.252G>T MANE Select ENSP00000465734.1:p.Glu84Asp
ENST00000587091.5:c.252G>T ENSP00000465734.1:p.Glu84Asp
NM_006517.4:c.252G>T NP_006508.2:p.Glu84Asp
XM_005262294.1:c.252G>T XP_005262351.1:p.Glu84Asp
XM_011531015.1:c.252G>T XP_011529317.1:p.Glu84Asp
NM_006517.5:c.252G>T MANE Select NP_006508.2:p.Glu84Asp
Search 100 bp 5'
Search 100 bp 3'