Canonical Allele Identifier: CA413656072
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs797045964
gnomAD v2: X-73641711-C-G
gnomAD v4: X-74421876-C-G
MyVariant Identifiers: chrX:g.73641711C>G (hg19) chrX:g.73641711_73641721delinsGGCCTACGGTA (hg19) chrX:g.74421876C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421876C>G , CM000685.2:g.74421876C>G GRCh38
NC_000023.10:g.73641711C>G , CM000685.1:g.73641711C>G GRCh37
NC_000023.9:g.73558436C>G NCBI36
NG_011641.1:g.5627C>G
NG_011641.2:g.5627C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.239C>G MANE Select ENSP00000465734.1:p.Thr80Arg
ENST00000587091.5:c.239C>G ENSP00000465734.1:p.Thr80Arg
NM_006517.4:c.239C>G NP_006508.2:p.Thr80Arg
XM_005262294.1:c.239C>G XP_005262351.1:p.Thr80Arg
XM_011531015.1:c.239C>G XP_011529317.1:p.Thr80Arg
NM_006517.5:c.239C>G MANE Select NP_006508.2:p.Thr80Arg
Search 100 bp 5'
Search 100 bp 3'