Canonical Allele Identifier: CA2579647045
Gene: SLC16A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421772_74421777dup , CM000685.2:g.74421772_74421777dup GRCh38
NC_000023.10:g.73641607_73641612dup , CM000685.1:g.73641607_73641612dup GRCh37
NC_000023.9:g.73558332_73558337dup NCBI36
NG_011641.1:g.5523_5528dup
NG_011641.2:g.5523_5528dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.135_140dup MANE Select ENSP00000465734.1:p.Pro47_Pro48insValPro
ENST00000587091.5:c.135_140dup ENSP00000465734.1:p.Pro47_Pro48insValPro
NM_006517.4:c.135_140dup NP_006508.2:p.Pro47_Pro48insValPro
XM_005262294.1:c.135_140dup XP_005262351.1:p.Pro47_Pro48insValPro
XM_011531015.1:c.135_140dup XP_011529317.1:p.Pro47_Pro48insValPro
NM_006517.5:c.135_140dup MANE Select NP_006508.2:p.Pro47_Pro48insValPro