Canonical Allele Identifier: CA2839151072
Gene: SCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525729dup , CM000684.2:g.50525729dup GRCh38
NC_000022.10:g.50964158dup , CM000684.1:g.50964158dup GRCh37
NC_000022.9:g.49311024dup NCBI36
NG_011860.1:g.9357dup , LRG_727:g.9357dup
NG_016235.1:g.5711dup
NG_021419.1:g.22514dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000543927.6:c.-14+517dup ENSP00000444433.1:n.-14+517dup
ENST00000638598.2:c.-14+272dup ENSP00000491753.2:n.-14+272dup
ENST00000423348.1:c.-14+517dup ENSP00000403570.1:n.-14+517dup
ENST00000439934.5:c.-14+272dup ENSP00000415642.1:n.-14+272dup
ENST00000535425.5:c.-14+272dup ENSP00000444242.1:n.-14+272dup
ENST00000543927.5:c.-14+517dup ENSP00000444433.1:n.-14+517dup
NM_001169109.1:c.-14+517dup NP_001162580.1:n.-14+517dup
NM_001169110.1:c.-14+272dup NP_001162581.1:n.-14+272dup
NM_001169109.2:c.-14+517dup NP_001162580.1:n.-14+517dup