Canonical Allele Identifier: CA9778944
Gene: SCP2D1 HGNC NCBI
SCP2D1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1053839

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18814110C>T , CM000682.2:g.18814110C>T GRCh38
NC_000020.10:g.18794754C>T , CM000682.1:g.18794754C>T GRCh37
NC_000020.9:g.18742754C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377428.4:c.295C>T (SCP2D1) MANE Select ENSP00000366645.2:p.Pro99Ser
ENST00000377428.3:c.295C>T (SCP2D1) ENSP00000366645.2:p.Pro99Ser
NM_001242671.2:c.117-3995G>A (SCP2D1-AS1) NP_001229600.1:n.117-3995G>A
NM_001302818.1:c.93-3995G>A (SCP2D1-AS1) NP_001289747.1:n.93-3995G>A
NM_178483.2:c.295C>T (SCP2D1) NP_848578.1:p.Pro99Ser
NM_178483.3:c.295C>T (SCP2D1) MANE Select NP_848578.1:p.Pro99Ser
NR_161342.1:n.269-3995G>A (SCP2D1-AS1)
NR_161343.1:n.245-3995G>A (SCP2D1-AS1)