Canonical Allele Identifier: CA10454380
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs749347825
ExAC: X:73641638 C / G
gnomAD v2: X-73641638-C-G
gnomAD v4: X-74421803-C-G
MyVariant Identifiers: chrX:g.73641638C>G (hg19) chrX:g.74421803C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421803C>G , CM000685.2:g.74421803C>G GRCh38
NC_000023.10:g.73641638C>G , CM000685.1:g.73641638C>G GRCh37
NC_000023.9:g.73558363C>G NCBI36
NG_011641.1:g.5554C>G
NG_011641.2:g.5554C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.166C>G MANE Select ENSP00000465734.1:p.Gln56Glu
ENST00000587091.5:c.166C>G ENSP00000465734.1:p.Gln56Glu
NM_006517.4:c.166C>G NP_006508.2:p.Gln56Glu
XM_005262294.1:c.166C>G XP_005262351.1:p.Gln56Glu
XM_011531015.1:c.166C>G XP_011529317.1:p.Gln56Glu
NM_006517.5:c.166C>G MANE Select NP_006508.2:p.Gln56Glu
Search 100 bp 5'
Search 100 bp 3'