Canonical Allele Identifier: CA417632374
Community Standard Title: NM_002979.5(SCP2):c.70-47dup
Gene: SCP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.52941749dup , CM000663.2:g.52941749dup GRCh38
NC_000001.10:g.53407421dup , CM000663.1:g.53407421dup GRCh37
NC_000001.9:g.53180009dup NCBI36
NG_012211.1:g.19474dup

Transcript Alleles

HGVS Amino-acid Change
NM_002979.5:c.70-47dup MANE Select NP_002970.2:n.70-47dup
ENST00000371514.8:c.70-47dup MANE Select ENSP00000360569.3:n.70-47dup
NM_001007098.2:c.70-47dup NP_001007099.1:n.70-47dup
NM_001007098.3:c.70-47dup NP_001007099.1:n.70-47dup
NM_001193599.1:c.70-47dup NP_001180528.1:n.70-47dup
NM_001193599.2:c.70-47dup NP_001180528.1:n.70-47dup
NM_001193600.1:c.70-47dup NP_001180529.1:n.70-47dup
NM_001193600.2:c.70-47dup NP_001180529.1:n.70-47dup
NM_001193617.1:c.-116-6260dup NP_001180546.1:n.-116-6260dup
NM_001193617.2:c.-116-6260dup NP_001180546.1:n.-116-6260dup
NM_001330587.1:c.70-47dup NP_001317516.1:n.70-47dup
NM_001330587.2:c.70-47dup NP_001317516.1:n.70-47dup
NM_002979.4:c.70-47dup NP_002970.2:n.70-47dup
ENST00000371509.8:c.70-47dup ENSP00000360564.4:n.70-47dup
ENST00000371513.9:c.70-47dup ENSP00000360568.5:n.70-47dup
ENST00000371514.7:c.70-47dup ENSP00000360569.3:n.70-47dup
ENST00000407246.6:c.70-47dup ENSP00000384569.2:n.70-47dup
ENST00000478631.6:c.70-47dup ENSP00000435194.1:n.70-47dup
ENST00000528311.5:c.-116-6260dup ENSP00000434132.1:n.-116-6260dup
ENST00000528809.1:n.87-47dup
XM_005271103.3:c.70-47dup XP_005271160.1:n.70-47dup
XM_005271103.4:c.70-47dup XP_005271160.1:n.70-47dup
XM_011541935.1:c.70-47dup XP_011540237.1:n.70-47dup
XM_011541935.2:c.70-47dup XP_011540237.1:n.70-47dup