Canonical Allele Identifier: CA10321393

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1949655
• ClinVar RCV Id: RCV002676384
• dbSNP Id: rs776496098
• ExAC: 22:50964210 G / C
• gnomAD v2: 22-50964210-G-C
• gnomAD v4: 22-50525781-G-C
• MyVariant Identifiers: chr22:g.50964210G>C (hg19) ; chr22:g.50525781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525781G>C , CM000684.2:g.50525781G>C	GRCh38
NC_000022.10:g.50964210G>C , CM000684.1:g.50964210G>C	GRCh37
NC_000022.9:g.49311076G>C	NCBI36
NG_011860.1:g.9305C>G , LRG_727:g.9305C>G
NG_016235.1:g.5659C>G
NG_021419.1:g.22566G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1438C>G (TYMP) MANE Select	ENSP00000252029.3:p.Pro480Ala
ENST00000395680.6:c.1438C>G (TYMP)	ENSP00000379037.1:p.Pro480Ala
ENST00000395681.6:c.1453C>G (TYMP)	ENSP00000379038.1:p.Pro485Ala
ENST00000543927.6:c.-14+465C>G (SCO2)	ENSP00000444433.1:n.-14+465C>G
ENST00000638598.2:c.-14+220C>G (SCO2)	ENSP00000491753.2:n.-14+220C>G
ENST00000651490.1:c.230C>G (TYMP)
ENST00000252029.7:c.1438C>G (TYMP)	ENSP00000252029.3:p.Pro480Ala
ENST00000395678.7:c.1438C>G (TYMP)	ENSP00000379036.3:p.Pro480Ala
ENST00000395680.5:c.1438C>G (TYMP)	ENSP00000379037.1:p.Pro480Ala
ENST00000395681.5:c.1453C>G (TYMP)	ENSP00000379038.1:p.Pro485Ala
ENST00000423348.1:c.-14+465C>G	ENSP00000403570.1:n.-14+465C>G
ENST00000439934.5:c.-14+220C>G	ENSP00000415642.1:n.-14+220C>G
ENST00000476284.1:n.1548C>G (TYMP)
ENST00000487577.5:n.1725C>G (TYMP)
ENST00000535425.5:c.-14+220C>G	ENSP00000444242.1:n.-14+220C>G
ENST00000543927.5:c.-14+465C>G	ENSP00000444433.1:n.-14+465C>G
NM_001113755.2:c.1438C>G (TYMP)	NP_001107227.1:p.Pro480Ala
NM_001113756.2:c.1438C>G (TYMP)	NP_001107228.1:p.Pro480Ala
NM_001169109.1:c.-14+465C>G (SCO2)	NP_001162580.1:n.-14+465C>G
NM_001169110.1:c.-14+220C>G (SCO2)	NP_001162581.1:n.-14+220C>G
NM_001257988.1:c.1438C>G , LRG_727t1:c.1438C>G (TYMP)	NP_001244917.1:p.Pro480Ala
NM_001257989.1:c.1453C>G , LRG_727t2:c.1453C>G (TYMP)	NP_001244918.1:p.Pro485Ala
NM_001953.4:c.1438C>G (TYMP)	NP_001944.1:p.Pro480Ala
NM_001113755.3:c.1438C>G (TYMP)	NP_001107227.1:p.Pro480Ala
NM_001113756.3:c.1438C>G (TYMP)	NP_001107228.1:p.Pro480Ala
NM_001953.5:c.1438C>G (TYMP) MANE Select	NP_001944.1:p.Pro480Ala
NM_001169109.2:c.-14+465C>G (SCO2)	NP_001162580.1:n.-14+465C>G