Canonical Allele Identifier: CA9778933
Gene: SCP2D1 HGNC NCBI
SCP2D1-AS1 HGNC NCBI
COSMIC:
COSM5653578 (not active)
MyVariant.info:
GRCh38 chr20:g.18814070C>T
GRCh37 chr20:g.18794714C>T
gnomAD v2:
20:18794714 C / T
gnomAD v3:
20:18814070 C / T
gnomAD v4:
chr20-18814070-C-T
Joint Max Group AF 0.38052136 (AFR)
Genomes Max Group AF 0.37786546 (AFR)
Exomes Max Group AF 0.38038833 (AFR)
dbSNP:
1053834
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18814070C>T , CM000682.2:g.18814070C>T GRCh38
NC_000020.10:g.18794714C>T , CM000682.1:g.18794714C>T GRCh37
NC_000020.9:g.18742714C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377428.4:c.255C>T (SCP2D1) MANE Select ENSP00000366645.2:p.Thr85=
ENST00000377428.3:c.255C>T (SCP2D1) ENSP00000366645.2:p.Thr85=
NM_001242671.2:c.117-3955G>A (SCP2D1-AS1) NP_001229600.1:n.117-3955G>A
NM_001302818.1:c.93-3955G>A (SCP2D1-AS1) NP_001289747.1:n.93-3955G>A
NM_178483.2:c.255C>T (SCP2D1) NP_848578.1:p.Thr85=
NM_178483.3:c.255C>T (SCP2D1) MANE Select NP_848578.1:p.Thr85=
NR_161342.1:n.269-3955G>A (SCP2D1-AS1)
NR_161343.1:n.245-3955G>A (SCP2D1-AS1)
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