Canonical Allele Identifier: CA413655850
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1168259780
gnomAD v2: X-73641608-G-A
gnomAD v4: X-74421773-G-A
MyVariant Identifiers: chrX:g.73641608G>A (hg19) chrX:g.74421773G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421773G>A , CM000685.2:g.74421773G>A GRCh38
NC_000023.10:g.73641608G>A , CM000685.1:g.73641608G>A GRCh37
NC_000023.9:g.73558333G>A NCBI36
NG_011641.1:g.5524G>A
NG_011641.2:g.5524G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.136G>A MANE Select ENSP00000465734.1:p.Val46Met
ENST00000587091.5:c.136G>A ENSP00000465734.1:p.Val46Met
NM_006517.4:c.136G>A NP_006508.2:p.Val46Met
XM_005262294.1:c.136G>A XP_005262351.1:p.Val46Met
XM_011531015.1:c.136G>A XP_011529317.1:p.Val46Met
NM_006517.5:c.136G>A MANE Select NP_006508.2:p.Val46Met
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