Canonical Allele Identifier: CA413655919
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1928302992
gnomAD v3: X-74421805-G-C
gnomAD v4: X-74421805-G-C
MyVariant Identifiers: chrX:g.73641640G>C (hg19) chrX:g.74421805G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421805G>C , CM000685.2:g.74421805G>C GRCh38
NC_000023.10:g.73641640G>C , CM000685.1:g.73641640G>C GRCh37
NC_000023.9:g.73558365G>C NCBI36
NG_011641.1:g.5556G>C
NG_011641.2:g.5556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.168G>C MANE Select ENSP00000465734.1:p.Gln56His
ENST00000587091.5:c.168G>C ENSP00000465734.1:p.Gln56His
NM_006517.4:c.168G>C NP_006508.2:p.Gln56His
XM_005262294.1:c.168G>C XP_005262351.1:p.Gln56His
XM_011531015.1:c.168G>C XP_011529317.1:p.Gln56His
NM_006517.5:c.168G>C MANE Select NP_006508.2:p.Gln56His
Search 100 bp 5'
Search 100 bp 3'