Canonical Allele Identifier: CA915952298

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 658290
• ClinVar RCV Id: RCV001825637 ; RCV000815088
• dbSNP Id: rs1603441848

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526365dup , CM000684.2:g.50526365dup	GRCh38
NC_000022.10:g.50964794dup , CM000684.1:g.50964794dup	GRCh37
NC_000022.9:g.49311660dup	NCBI36
NG_011860.1:g.8721dup , LRG_727:g.8721dup
NG_016235.1:g.5075dup
NG_021419.1:g.23150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1040dup (TYMP) MANE Select	ENSP00000252029.3:p.Ala348GlyfsTer?
ENST00000395680.6:c.1040dup (TYMP)	ENSP00000379037.1:p.Ala348GlyfsTer?
ENST00000395681.6:c.1040dup (TYMP)	ENSP00000379038.1:p.Ala348GlyfsTer?
ENST00000543927.6:c.-133dup (SCO2)	ENSP00000444433.1:n.-133dup
ENST00000650719.1:c.921dup (TYMP)	ENSP00000498276.1:p.Gly308TrpfsTer?
ENST00000652401.1:c.541dup (TYMP)
ENST00000252029.7:c.1040dup (TYMP)	ENSP00000252029.3:p.Ala348GlyfsTer?
ENST00000395678.7:c.1040dup (TYMP)	ENSP00000379036.3:p.Ala348GlyfsTer?
ENST00000395680.5:c.1040dup (TYMP)	ENSP00000379037.1:p.Ala348GlyfsTer?
ENST00000395681.5:c.1040dup (TYMP)	ENSP00000379038.1:p.Ala348GlyfsTer?
ENST00000423348.1:c.-133dup	ENSP00000403570.1:n.-133dup
ENST00000425169.1:c.941dup (TYMP)	ENSP00000395875.1:p.Ala315GlyfsTer?
ENST00000476284.1:n.1046dup (TYMP)
ENST00000487577.5:n.1327dup (TYMP)
ENST00000543927.5:c.-133dup	ENSP00000444433.1:n.-133dup
NM_001113755.2:c.1040dup (TYMP)	NP_001107227.1:p.Ala348GlyfsTer?
NM_001113756.2:c.1040dup (TYMP)	NP_001107228.1:p.Ala348GlyfsTer?
NM_001169109.1:c.-133dup (SCO2)	NP_001162580.1:n.-133dup
NM_001257988.1:c.1040dup , LRG_727t1:c.1040dup (TYMP)	NP_001244917.1:p.Ala348GlyfsTer?
NM_001257989.1:c.1040dup , LRG_727t2:c.1040dup (TYMP)	NP_001244918.1:p.Ala348GlyfsTer?
NM_001953.4:c.1040dup (TYMP)	NP_001944.1:p.Ala348GlyfsTer?
NM_001113755.3:c.1040dup (TYMP)	NP_001107227.1:p.Ala348GlyfsTer?
NM_001113756.3:c.1040dup (TYMP)	NP_001107228.1:p.Ala348GlyfsTer?
NM_001953.5:c.1040dup (TYMP) MANE Select	NP_001944.1:p.Ala348GlyfsTer?
NM_001169109.2:c.-133dup (SCO2)	NP_001162580.1:n.-133dup