Canonical Allele Identifier: CA10321419

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 666945
• ClinVar RCV Id: RCV001869265
• dbSNP Id: rs772501604
• ExAC: 22:50964286 GGCGCGGCTCTGCGGGCCGCTGA / G
• gnomAD v2: 22-50964286-GGCGCGGCTCTGCGGGCCGCTGA-G
• gnomAD v3: 22-50525857-GGCGCGGCTCTGCGGGCCGCTGA-G
• gnomAD v4: 22-50525857-GGCGCGGCTCTGCGGGCCGCTGA-G
• MyVariant Identifiers: chr22:g.50964287_50964308del (hg19) ; chr22:g.50525858_50525879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525864_50525885del , CM000684.2:g.50525864_50525885del	GRCh38
NC_000022.10:g.50964293_50964314del , CM000684.1:g.50964293_50964314del	GRCh37
NC_000022.9:g.49311159_49311180del	NCBI36
NG_011860.1:g.9207_9228del , LRG_727:g.9207_9228del
NG_016235.1:g.5561_5582del
NG_021419.1:g.22649_22670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1340_1361del (TYMP) MANE Select	ENSP00000252029.3:p.Leu447ProfsTer?
ENST00000395680.6:c.1340_1361del (TYMP)	ENSP00000379037.1:p.Leu447ProfsTer?
ENST00000395681.6:c.1355_1376del (TYMP)	ENSP00000379038.1:p.Leu452ProfsTer?
ENST00000543927.6:c.-14+367_-14+388del (SCO2)	ENSP00000444433.1:n.-14+367_-14+388del
ENST00000638598.2:c.-14+122_-14+143del (SCO2)	ENSP00000491753.2:n.-14+122_-14+143del
ENST00000651490.1:c.132_153del (TYMP)
ENST00000652401.1:c.841_862del (TYMP)
ENST00000252029.7:c.1340_1361del (TYMP)	ENSP00000252029.3:p.Leu447ProfsTer?
ENST00000395678.7:c.1340_1361del (TYMP)	ENSP00000379036.3:p.Leu447ProfsTer?
ENST00000395680.5:c.1340_1361del (TYMP)	ENSP00000379037.1:p.Leu447ProfsTer?
ENST00000395681.5:c.1355_1376del (TYMP)	ENSP00000379038.1:p.Leu452ProfsTer?
ENST00000423348.1:c.-14+367_-14+388del	ENSP00000403570.1:n.-14+367_-14+388del
ENST00000425169.1:c.1241_1262del (TYMP)	ENSP00000395875.1:p.Leu414ProfsTer?
ENST00000439934.5:c.-14+122_-14+143del	ENSP00000415642.1:n.-14+122_-14+143del
ENST00000476284.1:n.1450_1471del (TYMP)
ENST00000487577.5:n.1627_1648del (TYMP)
ENST00000535425.5:c.-14+122_-14+143del	ENSP00000444242.1:n.-14+122_-14+143del
ENST00000543927.5:c.-14+367_-14+388del	ENSP00000444433.1:n.-14+367_-14+388del
NM_001113755.2:c.1340_1361del (TYMP)	NP_001107227.1:p.Leu447ProfsTer?
NM_001113756.2:c.1340_1361del (TYMP)	NP_001107228.1:p.Leu447ProfsTer?
NM_001169109.1:c.-14+367_-14+388del (SCO2)	NP_001162580.1:n.-14+367_-14+388del
NM_001169110.1:c.-14+122_-14+143del (SCO2)	NP_001162581.1:n.-14+122_-14+143del
NM_001257988.1:c.1340_1361del , LRG_727t1:c.1340_1361del (TYMP)	NP_001244917.1:p.Leu447ProfsTer?
NM_001257989.1:c.1355_1376del , LRG_727t2:c.1355_1376del (TYMP)	NP_001244918.1:p.Leu452ProfsTer?
NM_001953.4:c.1340_1361del (TYMP)	NP_001944.1:p.Leu447ProfsTer?
NM_001113755.3:c.1340_1361del (TYMP)	NP_001107227.1:p.Leu447ProfsTer?
NM_001113756.3:c.1340_1361del (TYMP)	NP_001107228.1:p.Leu447ProfsTer?
NM_001953.5:c.1340_1361del (TYMP) MANE Select	NP_001944.1:p.Leu447ProfsTer?
NM_001169109.2:c.-14+367_-14+388del (SCO2)	NP_001162580.1:n.-14+367_-14+388del