Canonical Allele Identifier: CA325559620

Gene: SCO2

Linked Data

• dbSNP Id: rs1053851719
• gnomAD v2: 22-50964127-G-GC
• gnomAD v3: 22-50525698-G-GC
• gnomAD v4: 22-50525698-G-GC
• MyVariant Identifiers: chr22:g.50964127_50964128insC (hg19) ; chr22:g.50525698_50525699insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525703dup , CM000684.2:g.50525703dup	GRCh38
NC_000022.10:g.50964132dup , CM000684.1:g.50964132dup	GRCh37
NC_000022.9:g.49310998dup	NCBI36
NG_011860.1:g.9387dup , LRG_727:g.9387dup
NG_016235.1:g.5741dup
NG_021419.1:g.22488dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543927.6:c.-14+547dup	ENSP00000444433.1:n.-14+547dup
ENST00000638598.2:c.-14+302dup	ENSP00000491753.2:n.-14+302dup
ENST00000423348.1:c.-14+547dup	ENSP00000403570.1:n.-14+547dup
ENST00000439934.5:c.-14+302dup	ENSP00000415642.1:n.-14+302dup
ENST00000535425.5:c.-14+302dup	ENSP00000444242.1:n.-14+302dup
ENST00000543927.5:c.-14+547dup	ENSP00000444433.1:n.-14+547dup
NM_001169109.1:c.-14+547dup	NP_001162580.1:n.-14+547dup
NM_001169110.1:c.-14+302dup	NP_001162581.1:n.-14+302dup
NM_001169109.2:c.-14+547dup	NP_001162580.1:n.-14+547dup