Canonical Allele Identifier: CA515387663

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1986216
• ClinVar RCV Id: RCV002786013
• dbSNP Id: rs1469349055
• gnomAD v2: 22-50964301-G-A
• gnomAD v3: 22-50525872-G-A
• gnomAD v4: 22-50525872-G-A
• MyVariant Identifiers: chr22:g.50964301G>A (hg19) ; chr22:g.50525872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525872G>A , CM000684.2:g.50525872G>A	GRCh38
NC_000022.10:g.50964301G>A , CM000684.1:g.50964301G>A	GRCh37
NC_000022.9:g.49311167G>A	NCBI36
NG_011860.1:g.9214C>T , LRG_727:g.9214C>T
NG_016235.1:g.5568C>T
NG_021419.1:g.22657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1347C>T (TYMP) MANE Select	ENSP00000252029.3:p.Gly449=
ENST00000395680.6:c.1347C>T (TYMP)	ENSP00000379037.1:p.Gly449=
ENST00000395681.6:c.1362C>T (TYMP)	ENSP00000379038.1:p.Gly454=
ENST00000543927.6:c.-14+374C>T (SCO2)	ENSP00000444433.1:n.-14+374C>T
ENST00000638598.2:c.-14+129C>T (SCO2)	ENSP00000491753.2:n.-14+129C>T
ENST00000651490.1:c.139C>T (TYMP)
ENST00000652401.1:c.848C>T (TYMP)
ENST00000252029.7:c.1347C>T (TYMP)	ENSP00000252029.3:p.Gly449=
ENST00000395678.7:c.1347C>T (TYMP)	ENSP00000379036.3:p.Gly449=
ENST00000395680.5:c.1347C>T (TYMP)	ENSP00000379037.1:p.Gly449=
ENST00000395681.5:c.1362C>T (TYMP)	ENSP00000379038.1:p.Gly454=
ENST00000423348.1:c.-14+374C>T	ENSP00000403570.1:n.-14+374C>T
ENST00000425169.1:c.1248C>T (TYMP)	ENSP00000395875.1:p.Gly416=
ENST00000439934.5:c.-14+129C>T	ENSP00000415642.1:n.-14+129C>T
ENST00000476284.1:n.1457C>T (TYMP)
ENST00000487577.5:n.1634C>T (TYMP)
ENST00000535425.5:c.-14+129C>T	ENSP00000444242.1:n.-14+129C>T
ENST00000543927.5:c.-14+374C>T	ENSP00000444433.1:n.-14+374C>T
NM_001113755.2:c.1347C>T (TYMP)	NP_001107227.1:p.Gly449=
NM_001113756.2:c.1347C>T (TYMP)	NP_001107228.1:p.Gly449=
NM_001169109.1:c.-14+374C>T (SCO2)	NP_001162580.1:n.-14+374C>T
NM_001169110.1:c.-14+129C>T (SCO2)	NP_001162581.1:n.-14+129C>T
NM_001257988.1:c.1347C>T , LRG_727t1:c.1347C>T (TYMP)	NP_001244917.1:p.Gly449=
NM_001257989.1:c.1362C>T , LRG_727t2:c.1362C>T (TYMP)	NP_001244918.1:p.Gly454=
NM_001953.4:c.1347C>T (TYMP)	NP_001944.1:p.Gly449=
NM_001113755.3:c.1347C>T (TYMP)	NP_001107227.1:p.Gly449=
NM_001113756.3:c.1347C>T (TYMP)	NP_001107228.1:p.Gly449=
NM_001953.5:c.1347C>T (TYMP) MANE Select	NP_001944.1:p.Gly449=
NM_001169109.2:c.-14+374C>T (SCO2)	NP_001162580.1:n.-14+374C>T