Canonical Allele Identifier: CA412196788

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 2109216
• ClinVar RCV Id: RCV003038246
• dbSNP Id: rs1569522033
• MyVariant Identifiers: chr22:g.50964460G>C (hg19) ; chr22:g.50526031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526031G>C , CM000684.2:g.50526031G>C	GRCh38
NC_000022.10:g.50964460G>C , CM000684.1:g.50964460G>C	GRCh37
NC_000022.9:g.49311326G>C	NCBI36
NG_011860.1:g.9055C>G , LRG_727:g.9055C>G
NG_016235.1:g.5409C>G
NG_021419.1:g.22816G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1270C>G (TYMP) MANE Select	ENSP00000252029.3:p.Leu424Val
ENST00000395680.6:c.1270C>G (TYMP)	ENSP00000379037.1:p.Leu424Val
ENST00000395681.6:c.1285C>G (TYMP)	ENSP00000379038.1:p.Leu429Val
ENST00000543927.6:c.-14+215C>G (SCO2)	ENSP00000444433.1:n.-14+215C>G
ENST00000638598.2:c.-44C>G (SCO2)	ENSP00000491753.2:n.-44C>G
ENST00000651490.1:c.93-113C>G (TYMP)
ENST00000652401.1:c.771C>G (TYMP)
ENST00000252029.7:c.1270C>G (TYMP)	ENSP00000252029.3:p.Leu424Val
ENST00000395678.7:c.1270C>G (TYMP)	ENSP00000379036.3:p.Leu424Val
ENST00000395680.5:c.1270C>G (TYMP)	ENSP00000379037.1:p.Leu424Val
ENST00000395681.5:c.1285C>G (TYMP)	ENSP00000379038.1:p.Leu429Val
ENST00000423348.1:c.-14+215C>G	ENSP00000403570.1:n.-14+215C>G
ENST00000425169.1:c.1171C>G (TYMP)	ENSP00000395875.1:p.Leu391Val
ENST00000439934.5:c.-44C>G	ENSP00000415642.1:n.-44C>G
ENST00000476284.1:n.1380C>G (TYMP)
ENST00000487577.5:n.1557C>G (TYMP)
ENST00000535425.5:c.-44C>G	ENSP00000444242.1:n.-44C>G
ENST00000543927.5:c.-14+215C>G	ENSP00000444433.1:n.-14+215C>G
NM_001113755.2:c.1270C>G (TYMP)	NP_001107227.1:p.Leu424Val
NM_001113756.2:c.1270C>G (TYMP)	NP_001107228.1:p.Leu424Val
NM_001169109.1:c.-14+215C>G (SCO2)	NP_001162580.1:n.-14+215C>G
NM_001169110.1:c.-44C>G (SCO2)	NP_001162581.1:n.-44C>G
NM_001257988.1:c.1270C>G , LRG_727t1:c.1270C>G (TYMP)	NP_001244917.1:p.Leu424Val
NM_001257989.1:c.1285C>G , LRG_727t2:c.1285C>G (TYMP)	NP_001244918.1:p.Leu429Val
NM_001953.4:c.1270C>G (TYMP)	NP_001944.1:p.Leu424Val
NM_001113755.3:c.1270C>G (TYMP)	NP_001107227.1:p.Leu424Val
NM_001113756.3:c.1270C>G (TYMP)	NP_001107228.1:p.Leu424Val
NM_001953.5:c.1270C>G (TYMP) MANE Select	NP_001944.1:p.Leu424Val
NM_001169109.2:c.-14+215C>G (SCO2)	NP_001162580.1:n.-14+215C>G