Canonical Allele Identifier: CA517464277
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1366211648
gnomAD v2: X-73641616-G-C
gnomAD v4: X-74421781-G-C
MyVariant Identifiers: chrX:g.73641616G>C (hg19) chrX:g.74421781G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421781G>C , CM000685.2:g.74421781G>C GRCh38
NC_000023.10:g.73641616G>C , CM000685.1:g.73641616G>C GRCh37
NC_000023.9:g.73558341G>C NCBI36
NG_011641.1:g.5532G>C
NG_011641.2:g.5532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.144G>C MANE Select ENSP00000465734.1:p.Pro48=
ENST00000587091.5:c.144G>C ENSP00000465734.1:p.Pro48=
NM_006517.4:c.144G>C NP_006508.2:p.Pro48=
XM_005262294.1:c.144G>C XP_005262351.1:p.Pro48=
XM_011531015.1:c.144G>C XP_011529317.1:p.Pro48=
NM_006517.5:c.144G>C MANE Select NP_006508.2:p.Pro48=
Search 100 bp 5'
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