Canonical Allele Identifier: CA2577766538

Gene: SCO2

Linked Data

• gnomAD v4: 22-50525685-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525685G>T , CM000684.2:g.50525685G>T	GRCh38
NC_000022.10:g.50964114G>T , CM000684.1:g.50964114G>T	GRCh37
NC_000022.9:g.49310980G>T	NCBI36
NG_011860.1:g.9401C>A , LRG_727:g.9401C>A
NG_016235.1:g.5755C>A
NG_021419.1:g.22470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+561C>A	ENSP00000444433.1:n.-14+561C>A
ENST00000638598.2:c.-14+316C>A	ENSP00000491753.2:n.-14+316C>A
ENST00000423348.1:c.-14+561C>A	ENSP00000403570.1:n.-14+561C>A
ENST00000439934.5:c.-14+316C>A	ENSP00000415642.1:n.-14+316C>A
ENST00000535425.5:c.-14+316C>A	ENSP00000444242.1:n.-14+316C>A
ENST00000543927.5:c.-14+561C>A	ENSP00000444433.1:n.-14+561C>A
NM_001169109.1:c.-14+561C>A	NP_001162580.1:n.-14+561C>A
NM_001169110.1:c.-14+316C>A	NP_001162581.1:n.-14+316C>A
NM_001169109.2:c.-14+561C>A	NP_001162580.1:n.-14+561C>A