Canonical Allele Identifier: CA413656125
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1205589862
gnomAD v2: X-73641741-G-A
gnomAD v3: X-74421906-G-A
gnomAD v4: X-74421906-G-A
MyVariant Identifiers: chrX:g.73641741G>A (hg19) chrX:g.74421906G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421906G>A , CM000685.2:g.74421906G>A GRCh38
NC_000023.10:g.73641741G>A , CM000685.1:g.73641741G>A GRCh37
NC_000023.9:g.73558466G>A NCBI36
NG_011641.1:g.5657G>A
NG_011641.2:g.5657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.269G>A MANE Select ENSP00000465734.1:p.Arg90His
ENST00000636771.1:c.15G>A
ENST00000587091.5:c.269G>A ENSP00000465734.1:p.Arg90His
NM_006517.4:c.269G>A NP_006508.2:p.Arg90His
XM_005262294.1:c.269G>A XP_005262351.1:p.Arg90His
XM_011531015.1:c.269G>A XP_011529317.1:p.Arg90His
NM_006517.5:c.269G>A MANE Select NP_006508.2:p.Arg90His
Search 100 bp 5'
Search 100 bp 3'