Canonical Allele Identifier: CA10638033
Gene: SLC6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55656513C>T
GRCh37 chr16:g.55690425C>T
gnomAD v2:
16:55690425 C / T
gnomAD v3:
16:55656513 C / T
gnomAD v4:
chr16-55656513-C-T
Joint Max Group AF 0.80407795 (AFR)
Genomes Max Group AF 0.80466364 (AFR)
Exomes Max Group AF 0.79387613 (AFR)
dbSNP:
2242446
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55656513C>T , CM000678.2:g.55656513C>T GRCh38
NC_000016.9:g.55690425C>T , CM000678.1:g.55690425C>T GRCh37
NC_000016.8:g.54247926C>T NCBI36
NG_016969.1:g.5884C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.-182C>T ENSP00000219833.8:n.-182C>T
ENST00000568943.6:c.-51-131C>T MANE Select ENSP00000457473.1:n.-51-131C>T
ENST00000574918.2:c.-51-131C>T ENSP00000460214.2:n.-51-131C>T
ENST00000682050.1:c.-51-131C>T ENSP00000508367.1:n.-51-131C>T
ENST00000379906.6:c.-182C>T ENSP00000369237.2:n.-182C>T
ENST00000414754.7:c.-51-131C>T ENSP00000394956.3:n.-51-131C>T
ENST00000568529.6:c.-51-131C>T ENSP00000456377.2:n.-51-131C>T
ENST00000568655.5:c.-51-131C>T ENSP00000454603.1:n.-51-131C>T
ENST00000568943.5:c.-51-131C>T ENSP00000457473.1:n.-51-131C>T
NM_001043.3:c.-182C>T NP_001034.1:n.-182C>T
NM_001172501.1:c.-51-131C>T NP_001165972.1:n.-51-131C>T
XM_006721263.2:c.-51-131C>T XP_006721326.1:n.-51-131C>T
XM_011523295.1:c.-51-131C>T XP_011521597.1:n.-51-131C>T
XM_011523296.1:c.-51-131C>T XP_011521598.1:n.-51-131C>T
XM_011523297.1:c.-51-131C>T XP_011521599.1:n.-51-131C>T
XM_011523298.1:c.-51-131C>T XP_011521600.1:n.-51-131C>T
XR_933403.1:n.567-131C>T
XM_011523295.2:c.-51-131C>T XP_011521597.1:n.-51-131C>T
XM_011523296.2:c.-51-131C>T XP_011521598.1:n.-51-131C>T
XM_011523297.3:c.-51-131C>T XP_011521599.1:n.-51-131C>T
XM_011523298.2:c.-51-131C>T XP_011521600.1:n.-51-131C>T
XR_933403.3:n.243-131C>T
NM_001172501.2:c.-51-131C>T NP_001165972.1:n.-51-131C>T
NM_001172501.3:c.-51-131C>T MANE Select NP_001165972.1:n.-51-131C>T
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