Canonical Allele Identifier: CA2437472588
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1569281082
gnomAD v4: X-74421784-CGAGCCCCAGCCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421796_74421807del , CM000685.2:g.74421796_74421807del GRCh38
NC_000023.10:g.73641631_73641642del , CM000685.1:g.73641631_73641642del GRCh37
NC_000023.9:g.73558356_73558367del NCBI36
NG_011641.1:g.5547_5558del
NG_011641.2:g.5547_5558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.159_170del MANE Select ENSP00000465734.1:p.Glu54_Pro57del
ENST00000587091.5:c.159_170del ENSP00000465734.1:p.Glu54_Pro57del
NM_006517.4:c.159_170del NP_006508.2:p.Glu54_Pro57del
XM_005262294.1:c.159_170del XP_005262351.1:p.Glu54_Pro57del
XM_011531015.1:c.159_170del XP_011529317.1:p.Glu54_Pro57del
NM_006517.5:c.159_170del MANE Select NP_006508.2:p.Glu54_Pro57del
Search 100 bp 5'
Search 100 bp 3'