Canonical Allele Identifier: CA2573158287

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1620206
• ClinVar RCV Id: RCV002089306
• dbSNP Id: rs2148677222
• gnomAD v4: 22-50526152-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526156dup , CM000684.2:g.50526156dup	GRCh38
NC_000022.10:g.50964585dup , CM000684.1:g.50964585dup	GRCh37
NC_000022.9:g.49311451dup	NCBI36
NG_011860.1:g.8933dup , LRG_727:g.8933dup
NG_016235.1:g.5287dup
NG_021419.1:g.22941dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1160-12dup (TYMP) MANE Select	ENSP00000252029.3:n.1160-12dup
ENST00000395680.6:c.1160-12dup (TYMP)	ENSP00000379037.1:n.1160-12dup
ENST00000395681.6:c.1163dup (TYMP)	ENSP00000379038.1:p.Leu389SerfsTer?
ENST00000543927.6:c.-14+93dup (SCO2)	ENSP00000444433.1:n.-14+93dup
ENST00000651490.1:c.92+93dup (TYMP)
ENST00000652401.1:c.661-12dup (TYMP)
ENST00000252029.7:c.1160-12dup (TYMP)	ENSP00000252029.3:n.1160-12dup
ENST00000395678.7:c.1160-12dup (TYMP)	ENSP00000379036.3:n.1160-12dup
ENST00000395680.5:c.1160-12dup (TYMP)	ENSP00000379037.1:n.1160-12dup
ENST00000395681.5:c.1163dup (TYMP)	ENSP00000379038.1:p.Leu389SerfsTer?
ENST00000423348.1:c.-14+93dup	ENSP00000403570.1:n.-14+93dup
ENST00000425169.1:c.1061-12dup (TYMP)	ENSP00000395875.1:n.1061-12dup
ENST00000476284.1:n.1258dup (TYMP)
ENST00000487577.5:n.1447-12dup (TYMP)
ENST00000543927.5:c.-14+93dup	ENSP00000444433.1:n.-14+93dup
NM_001113755.2:c.1160-12dup (TYMP)	NP_001107227.1:n.1160-12dup
NM_001113756.2:c.1160-12dup (TYMP)	NP_001107228.1:n.1160-12dup
NM_001169109.1:c.-14+93dup (SCO2)	NP_001162580.1:n.-14+93dup
NM_001257988.1:c.1160-12dup , LRG_727t1:c.1160-12dup (TYMP)	NP_001244917.1:n.1160-12dup
NM_001257989.1:c.1163dup , LRG_727t2:c.1163dup (TYMP)	NP_001244918.1:p.Leu389SerfsTer?
NM_001953.4:c.1160-12dup (TYMP)	NP_001944.1:n.1160-12dup
NM_001113755.3:c.1160-12dup (TYMP)	NP_001107227.1:n.1160-12dup
NM_001113756.3:c.1160-12dup (TYMP)	NP_001107228.1:n.1160-12dup
NM_001953.5:c.1160-12dup (TYMP) MANE Select	NP_001944.1:n.1160-12dup
NM_001169109.2:c.-14+93dup (SCO2)	NP_001162580.1:n.-14+93dup