Canonical Allele Identifier: CA2499226230

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1143532
• ClinVar RCV Id: RCV001481709
• dbSNP Id: rs2148677200

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526148_50526157dup , CM000684.2:g.50526148_50526157dup	GRCh38
NC_000022.10:g.50964577_50964586dup , CM000684.1:g.50964577_50964586dup	GRCh37
NC_000022.9:g.49311443_49311452dup	NCBI36
NG_011860.1:g.8929_8938dup , LRG_727:g.8929_8938dup
NG_016235.1:g.5283_5292dup
NG_021419.1:g.22933_22942dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1160-16_1160-7dup (TYMP) MANE Select	ENSP00000252029.3:n.1160-16_1160-7dup
ENST00000395680.6:c.1160-16_1160-7dup (TYMP)	ENSP00000379037.1:n.1160-16_1160-7dup
ENST00000395681.6:c.1160-1_1168dup (TYMP)
ENST00000543927.6:c.-14+89_-14+98dup (SCO2)	ENSP00000444433.1:n.-14+89_-14+98dup
ENST00000651490.1:c.92+89_92+98dup (TYMP)
ENST00000652401.1:c.661-16_661-7dup (TYMP)
ENST00000252029.7:c.1160-16_1160-7dup (TYMP)	ENSP00000252029.3:n.1160-16_1160-7dup
ENST00000395678.7:c.1160-16_1160-7dup (TYMP)	ENSP00000379036.3:n.1160-16_1160-7dup
ENST00000395680.5:c.1160-16_1160-7dup (TYMP)	ENSP00000379037.1:n.1160-16_1160-7dup
ENST00000395681.5:c.1160-1_1168dup (TYMP)
ENST00000423348.1:c.-14+89_-14+98dup	ENSP00000403570.1:n.-14+89_-14+98dup
ENST00000425169.1:c.1061-16_1061-7dup (TYMP)	ENSP00000395875.1:n.1061-16_1061-7dup
ENST00000476284.1:n.1254_1263dup (TYMP)
ENST00000487577.5:n.1447-16_1447-7dup (TYMP)
ENST00000543927.5:c.-14+89_-14+98dup	ENSP00000444433.1:n.-14+89_-14+98dup
NM_001113755.2:c.1160-16_1160-7dup (TYMP)	NP_001107227.1:n.1160-16_1160-7dup
NM_001113756.2:c.1160-16_1160-7dup (TYMP)	NP_001107228.1:n.1160-16_1160-7dup
NM_001169109.1:c.-14+89_-14+98dup (SCO2)	NP_001162580.1:n.-14+89_-14+98dup
NM_001257988.1:c.1160-16_1160-7dup , LRG_727t1:c.1160-16_1160-7dup (TYMP)	NP_001244917.1:n.1160-16_1160-7dup
NM_001257989.1:c.1160-1_1168dup , LRG_727t2:c.1160-1_1168dup (TYMP)
NM_001953.4:c.1160-16_1160-7dup (TYMP)	NP_001944.1:n.1160-16_1160-7dup
NM_001113755.3:c.1160-16_1160-7dup (TYMP)	NP_001107227.1:n.1160-16_1160-7dup
NM_001113756.3:c.1160-16_1160-7dup (TYMP)	NP_001107228.1:n.1160-16_1160-7dup
NM_001953.5:c.1160-16_1160-7dup (TYMP) MANE Select	NP_001944.1:n.1160-16_1160-7dup
NM_001169109.2:c.-14+89_-14+98dup (SCO2)	NP_001162580.1:n.-14+89_-14+98dup