Canonical Allele Identifier: CA2657563202

Gene: SCO2

Linked Data

• gnomAD v4: 22-50525688-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525688C>T , CM000684.2:g.50525688C>T	GRCh38
NC_000022.10:g.50964117C>T , CM000684.1:g.50964117C>T	GRCh37
NC_000022.9:g.49310983C>T	NCBI36
NG_011860.1:g.9398G>A , LRG_727:g.9398G>A
NG_016235.1:g.5752G>A
NG_021419.1:g.22473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+558G>A	ENSP00000444433.1:n.-14+558G>A
ENST00000638598.2:c.-14+313G>A	ENSP00000491753.2:n.-14+313G>A
ENST00000423348.1:c.-14+558G>A	ENSP00000403570.1:n.-14+558G>A
ENST00000439934.5:c.-14+313G>A	ENSP00000415642.1:n.-14+313G>A
ENST00000535425.5:c.-14+313G>A	ENSP00000444242.1:n.-14+313G>A
ENST00000543927.5:c.-14+558G>A	ENSP00000444433.1:n.-14+558G>A
NM_001169109.1:c.-14+558G>A	NP_001162580.1:n.-14+558G>A
NM_001169110.1:c.-14+313G>A	NP_001162581.1:n.-14+313G>A
NM_001169109.2:c.-14+558G>A	NP_001162580.1:n.-14+558G>A