Canonical Allele Identifier: CA10321496

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1140981
• ClinVar RCV Id: RCV001478278
• dbSNP Id: rs761685698
• ExAC: 22:50964784 C / T
• gnomAD v2: 22-50964784-C-T
• gnomAD v4: 22-50526355-C-T
• MyVariant Identifiers: chr22:g.50964784C>T (hg19) ; chr22:g.50526355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526355C>T , CM000684.2:g.50526355C>T	GRCh38
NC_000022.10:g.50964784C>T , CM000684.1:g.50964784C>T	GRCh37
NC_000022.9:g.49311650C>T	NCBI36
NG_011860.1:g.8731G>A , LRG_727:g.8731G>A
NG_016235.1:g.5085G>A
NG_021419.1:g.23140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1050G>A (TYMP) MANE Select	ENSP00000252029.3:p.Gln350=
ENST00000395680.6:c.1050G>A (TYMP)	ENSP00000379037.1:p.Gln350=
ENST00000395681.6:c.1050G>A (TYMP)	ENSP00000379038.1:p.Gln350=
ENST00000543927.6:c.-123G>A (SCO2)	ENSP00000444433.1:n.-123G>A
ENST00000650719.1:c.931G>A (TYMP)	ENSP00000498276.1:p.Gly311Arg
ENST00000652401.1:c.551G>A (TYMP)
ENST00000252029.7:c.1050G>A (TYMP)	ENSP00000252029.3:p.Gln350=
ENST00000395678.7:c.1050G>A (TYMP)	ENSP00000379036.3:p.Gln350=
ENST00000395680.5:c.1050G>A (TYMP)	ENSP00000379037.1:p.Gln350=
ENST00000395681.5:c.1050G>A (TYMP)	ENSP00000379038.1:p.Gln350=
ENST00000423348.1:c.-123G>A	ENSP00000403570.1:n.-123G>A
ENST00000425169.1:c.951G>A (TYMP)	ENSP00000395875.1:p.Gln317=
ENST00000476284.1:n.1056G>A (TYMP)
ENST00000487577.5:n.1337G>A (TYMP)
ENST00000543927.5:c.-123G>A	ENSP00000444433.1:n.-123G>A
NM_001113755.2:c.1050G>A (TYMP)	NP_001107227.1:p.Gln350=
NM_001113756.2:c.1050G>A (TYMP)	NP_001107228.1:p.Gln350=
NM_001169109.1:c.-123G>A (SCO2)	NP_001162580.1:n.-123G>A
NM_001257988.1:c.1050G>A , LRG_727t1:c.1050G>A (TYMP)	NP_001244917.1:p.Gln350=
NM_001257989.1:c.1050G>A , LRG_727t2:c.1050G>A (TYMP)	NP_001244918.1:p.Gln350=
NM_001953.4:c.1050G>A (TYMP)	NP_001944.1:p.Gln350=
NM_001113755.3:c.1050G>A (TYMP)	NP_001107227.1:p.Gln350=
NM_001113756.3:c.1050G>A (TYMP)	NP_001107228.1:p.Gln350=
NM_001953.5:c.1050G>A (TYMP) MANE Select	NP_001944.1:p.Gln350=
NM_001169109.2:c.-123G>A (SCO2)	NP_001162580.1:n.-123G>A