Canonical Allele Identifier: CA2580101384
Gene: SLC16A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087146
ClinVar RCV Id: RCV003007840
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74529447_74529448delinsTT , CM000685.2:g.74529447_74529448delinsTT GRCh38
NC_000023.10:g.73749282_73749283delinsTT , CM000685.1:g.73749282_73749283delinsTT GRCh37
NC_000023.9:g.73666007_73666008delinsTT NCBI36
NG_011641.1:g.113198_113199delinsTT
NG_011641.2:g.113198_113199delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000587091.6:c.1399+6_1399+7delinsTT MANE Select ENSP00000465734.1:n.1399+6_1399+7delinsTT
ENST00000636771.1:c.1308+6_1308+7delinsTT
ENST00000587091.5:c.1399+6_1399+7delinsTT ENSP00000465734.1:n.1399+6_1399+7delinsTT
ENST00000590447.1:c.611-1886_611-1885delinsTT
NM_006517.4:c.1399+6_1399+7delinsTT NP_006508.2:n.1399+6_1399+7delinsTT
XM_005262294.1:c.1171-1886_1171-1885delinsTT XP_005262351.1:n.1171-1886_1171-1885delinsTT
NM_006517.5:c.1399+6_1399+7delinsTT MANE Select NP_006508.2:n.1399+6_1399+7delinsTT
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