Canonical Allele Identifier: CA325559645

Gene: SCO2

Linked Data

• dbSNP Id: rs574821003
• gnomAD v2: 22-50964136-T-G
• gnomAD v3: 22-50525707-T-G
• gnomAD v4: 22-50525707-T-G
• MyVariant Identifiers: chr22:g.50964136T>G (hg19) ; chr22:g.50525707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525707T>G , CM000684.2:g.50525707T>G	GRCh38
NC_000022.10:g.50964136T>G , CM000684.1:g.50964136T>G	GRCh37
NC_000022.9:g.49311002T>G	NCBI36
NG_011860.1:g.9379A>C , LRG_727:g.9379A>C
NG_016235.1:g.5733A>C
NG_021419.1:g.22492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+539A>C	ENSP00000444433.1:n.-14+539A>C
ENST00000638598.2:c.-14+294A>C	ENSP00000491753.2:n.-14+294A>C
ENST00000423348.1:c.-14+539A>C	ENSP00000403570.1:n.-14+539A>C
ENST00000439934.5:c.-14+294A>C	ENSP00000415642.1:n.-14+294A>C
ENST00000535425.5:c.-14+294A>C	ENSP00000444242.1:n.-14+294A>C
ENST00000543927.5:c.-14+539A>C	ENSP00000444433.1:n.-14+539A>C
NM_001169109.1:c.-14+539A>C	NP_001162580.1:n.-14+539A>C
NM_001169110.1:c.-14+294A>C	NP_001162581.1:n.-14+294A>C
NM_001169109.2:c.-14+539A>C	NP_001162580.1:n.-14+539A>C