Canonical Allele Identifier: CA325560833

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 2157816
• ClinVar RCV Id: RCV003093382
• dbSNP Id: rs936432894
• gnomAD v2: 22-50964843-C-T
• gnomAD v3: 22-50526414-C-T
• gnomAD v4: 22-50526414-C-T
• MyVariant Identifiers: chr22:g.50964843C>T (hg19) ; chr22:g.50526414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526414C>T , CM000684.2:g.50526414C>T	GRCh38
NC_000022.10:g.50964843C>T , CM000684.1:g.50964843C>T	GRCh37
NC_000022.9:g.49311709C>T	NCBI36
NG_011860.1:g.8672G>A , LRG_727:g.8672G>A
NG_016235.1:g.5026G>A
NG_021419.1:g.23199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.991G>A (TYMP) MANE Select	ENSP00000252029.3:p.Ala331Thr
ENST00000395680.6:c.991G>A (TYMP)	ENSP00000379037.1:p.Ala331Thr
ENST00000395681.6:c.991G>A (TYMP)	ENSP00000379038.1:p.Ala331Thr
ENST00000543927.6:c.-182G>A (SCO2)	ENSP00000444433.1:n.-182G>A
ENST00000650719.1:c.872G>A (TYMP)	ENSP00000498276.1:p.Gly291Asp
ENST00000651401.1:c.475G>A (TYMP)	ENSP00000499115.1:p.Ala159Thr
ENST00000652401.1:c.492G>A (TYMP)
ENST00000252029.7:c.991G>A (TYMP)	ENSP00000252029.3:p.Ala331Thr
ENST00000395678.7:c.991G>A (TYMP)	ENSP00000379036.3:p.Ala331Thr
ENST00000395680.5:c.991G>A (TYMP)	ENSP00000379037.1:p.Ala331Thr
ENST00000395681.5:c.991G>A (TYMP)	ENSP00000379038.1:p.Ala331Thr
ENST00000423348.1:c.-182G>A	ENSP00000403570.1:n.-182G>A
ENST00000425169.1:c.892G>A (TYMP)	ENSP00000395875.1:p.Ala298Thr
ENST00000476284.1:n.997G>A (TYMP)
ENST00000487577.5:n.1278G>A (TYMP)
ENST00000543927.5:c.-182G>A	ENSP00000444433.1:n.-182G>A
NM_001113755.2:c.991G>A (TYMP)	NP_001107227.1:p.Ala331Thr
NM_001113756.2:c.991G>A (TYMP)	NP_001107228.1:p.Ala331Thr
NM_001169109.1:c.-182G>A (SCO2)	NP_001162580.1:n.-182G>A
NM_001257988.1:c.991G>A , LRG_727t1:c.991G>A (TYMP)	NP_001244917.1:p.Ala331Thr
NM_001257989.1:c.991G>A , LRG_727t2:c.991G>A (TYMP)	NP_001244918.1:p.Ala331Thr
NM_001953.4:c.991G>A (TYMP)	NP_001944.1:p.Ala331Thr
NM_001113755.3:c.991G>A (TYMP)	NP_001107227.1:p.Ala331Thr
NM_001113756.3:c.991G>A (TYMP)	NP_001107228.1:p.Ala331Thr
NM_001953.5:c.991G>A (TYMP) MANE Select	NP_001944.1:p.Ala331Thr
NM_001169109.2:c.-182G>A (SCO2)	NP_001162580.1:n.-182G>A