Canonical Allele Identifier: CA640357337

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 2165848
• ClinVar RCV Id: RCV003090191
• dbSNP Id: rs1372684868
• gnomAD v2: 22-50964414-C-T
• gnomAD v3: 22-50525985-C-T
• gnomAD v4: 22-50525985-C-T
• MyVariant Identifiers: chr22:g.50964414C>T (hg19) ; chr22:g.50964414_50964415delinsTG (hg19) ; chr22:g.50525985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525985C>T , CM000684.2:g.50525985C>T	GRCh38
NC_000022.10:g.50964414C>T , CM000684.1:g.50964414C>T	GRCh37
NC_000022.9:g.49311280C>T	NCBI36
NG_011860.1:g.9101G>A , LRG_727:g.9101G>A
NG_016235.1:g.5455G>A
NG_021419.1:g.22770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1300+16G>A (TYMP) MANE Select	ENSP00000252029.3:n.1300+16G>A
ENST00000395680.6:c.1300+16G>A (TYMP)	ENSP00000379037.1:n.1300+16G>A
ENST00000395681.6:c.1315+16G>A (TYMP)	ENSP00000379038.1:n.1315+16G>A
ENST00000543927.6:c.-14+261G>A (SCO2)	ENSP00000444433.1:n.-14+261G>A
ENST00000638598.2:c.-14+16G>A (SCO2)	ENSP00000491753.2:n.-14+16G>A
ENST00000651490.1:c.93-67G>A (TYMP)
ENST00000652401.1:c.801+16G>A (TYMP)
ENST00000252029.7:c.1300+16G>A (TYMP)	ENSP00000252029.3:n.1300+16G>A
ENST00000395678.7:c.1300+16G>A (TYMP)	ENSP00000379036.3:n.1300+16G>A
ENST00000395680.5:c.1300+16G>A (TYMP)	ENSP00000379037.1:n.1300+16G>A
ENST00000395681.5:c.1315+16G>A (TYMP)	ENSP00000379038.1:n.1315+16G>A
ENST00000423348.1:c.-14+261G>A	ENSP00000403570.1:n.-14+261G>A
ENST00000425169.1:c.1201+16G>A (TYMP)	ENSP00000395875.1:n.1201+16G>A
ENST00000439934.5:c.-14+16G>A	ENSP00000415642.1:n.-14+16G>A
ENST00000476284.1:n.1410+16G>A (TYMP)
ENST00000487577.5:n.1587+16G>A (TYMP)
ENST00000535425.5:c.-14+16G>A	ENSP00000444242.1:n.-14+16G>A
ENST00000543927.5:c.-14+261G>A	ENSP00000444433.1:n.-14+261G>A
NM_001113755.2:c.1300+16G>A (TYMP)	NP_001107227.1:n.1300+16G>A
NM_001113756.2:c.1300+16G>A (TYMP)	NP_001107228.1:n.1300+16G>A
NM_001169109.1:c.-14+261G>A (SCO2)	NP_001162580.1:n.-14+261G>A
NM_001169110.1:c.-14+16G>A (SCO2)	NP_001162581.1:n.-14+16G>A
NM_001257988.1:c.1300+16G>A , LRG_727t1:c.1300+16G>A (TYMP)	NP_001244917.1:n.1300+16G>A
NM_001257989.1:c.1315+16G>A , LRG_727t2:c.1315+16G>A (TYMP)	NP_001244918.1:n.1315+16G>A
NM_001953.4:c.1300+16G>A (TYMP)	NP_001944.1:n.1300+16G>A
NM_001113755.3:c.1300+16G>A (TYMP)	NP_001107227.1:n.1300+16G>A
NM_001113756.3:c.1300+16G>A (TYMP)	NP_001107228.1:n.1300+16G>A
NM_001953.5:c.1300+16G>A (TYMP) MANE Select	NP_001944.1:n.1300+16G>A
NM_001169109.2:c.-14+261G>A (SCO2)	NP_001162580.1:n.-14+261G>A