Canonical Allele Identifier: CA2838969317

Gene: SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525696C>A , CM000684.2:g.50525696C>A	GRCh38
NC_000022.10:g.50964125C>A , CM000684.1:g.50964125C>A	GRCh37
NC_000022.9:g.49310991C>A	NCBI36
NG_011860.1:g.9390G>T , LRG_727:g.9390G>T
NG_016235.1:g.5744G>T
NG_021419.1:g.22481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+550G>T	ENSP00000444433.1:n.-14+550G>T
ENST00000638598.2:c.-14+305G>T	ENSP00000491753.2:n.-14+305G>T
ENST00000423348.1:c.-14+550G>T	ENSP00000403570.1:n.-14+550G>T
ENST00000439934.5:c.-14+305G>T	ENSP00000415642.1:n.-14+305G>T
ENST00000535425.5:c.-14+305G>T	ENSP00000444242.1:n.-14+305G>T
ENST00000543927.5:c.-14+550G>T	ENSP00000444433.1:n.-14+550G>T
NM_001169109.1:c.-14+550G>T	NP_001162580.1:n.-14+550G>T
NM_001169110.1:c.-14+305G>T	NP_001162581.1:n.-14+305G>T
NM_001169109.2:c.-14+550G>T	NP_001162580.1:n.-14+550G>T