Canonical Allele Identifier: CA10654206

Gene: SCO2

Linked Data

• ClinVar Variation Id: 342134
• ClinVar RCV Id: RCV000263704 ; RCV000318947
• dbSNP Id: rs145052206
• gnomAD v2: 22-50964029-C-G
• gnomAD v3: 22-50525600-C-G
• gnomAD v4: 22-50525600-C-G
• MyVariant Identifiers: chr22:g.50964029C>G (hg19) ; chr22:g.50525600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525600C>G , CM000684.2:g.50525600C>G	GRCh38
NC_000022.10:g.50964029C>G , CM000684.1:g.50964029C>G	GRCh37
NC_000022.9:g.49310895C>G	NCBI36
NG_011860.1:g.9486G>C , LRG_727:g.9486G>C
NG_016235.1:g.5840G>C
NG_021419.1:g.22385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+646G>C	ENSP00000444433.1:n.-14+646G>C
ENST00000638598.2:c.-14+401G>C	ENSP00000491753.2:n.-14+401G>C
ENST00000252785.3:c.-172G>C	ENSP00000252785.3:n.-172G>C
ENST00000395693.7:c.-142G>C	ENSP00000379046.3:n.-142G>C
ENST00000423348.1:c.-14+646G>C	ENSP00000403570.1:n.-14+646G>C
ENST00000439934.5:c.-14+401G>C	ENSP00000415642.1:n.-14+401G>C
ENST00000535425.5:c.-14+401G>C	ENSP00000444242.1:n.-14+401G>C
ENST00000543927.5:c.-14+646G>C	ENSP00000444433.1:n.-14+646G>C
NM_001169109.1:c.-14+646G>C	NP_001162580.1:n.-14+646G>C
NM_001169110.1:c.-14+401G>C	NP_001162581.1:n.-14+401G>C
NM_001169111.1:c.-172G>C	NP_001162582.1:n.-172G>C
NM_005138.2:c.-142G>C	NP_005129.2:n.-142G>C
NM_001169109.2:c.-14+646G>C	NP_001162580.1:n.-14+646G>C