Canonical Allele Identifier: CA412197925

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 3185240
• ClinVar RCV Id: RCV004484091
• MyVariant Identifiers: chr22:g.50964813C>G (hg19) ; chr22:g.50526384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526384C>G , CM000684.2:g.50526384C>G	GRCh38
NC_000022.10:g.50964813C>G , CM000684.1:g.50964813C>G	GRCh37
NC_000022.9:g.49311679C>G	NCBI36
NG_011860.1:g.8702G>C , LRG_727:g.8702G>C
NG_016235.1:g.5056G>C
NG_021419.1:g.23169C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1021G>C (TYMP) MANE Select	ENSP00000252029.3:p.Gly341Arg
ENST00000395680.6:c.1021G>C (TYMP)	ENSP00000379037.1:p.Gly341Arg
ENST00000395681.6:c.1021G>C (TYMP)	ENSP00000379038.1:p.Gly341Arg
ENST00000543927.6:c.-152G>C (SCO2)	ENSP00000444433.1:n.-152G>C
ENST00000650719.1:c.902G>C (TYMP)	ENSP00000498276.1:p.Trp301Ser
ENST00000651401.1:c.505G>C (TYMP)	ENSP00000499115.1:p.Gly169Arg
ENST00000652401.1:c.522G>C (TYMP)
ENST00000252029.7:c.1021G>C (TYMP)	ENSP00000252029.3:p.Gly341Arg
ENST00000395678.7:c.1021G>C (TYMP)	ENSP00000379036.3:p.Gly341Arg
ENST00000395680.5:c.1021G>C (TYMP)	ENSP00000379037.1:p.Gly341Arg
ENST00000395681.5:c.1021G>C (TYMP)	ENSP00000379038.1:p.Gly341Arg
ENST00000423348.1:c.-152G>C	ENSP00000403570.1:n.-152G>C
ENST00000425169.1:c.922G>C (TYMP)	ENSP00000395875.1:p.Gly308Arg
ENST00000476284.1:n.1027G>C (TYMP)
ENST00000487577.5:n.1308G>C (TYMP)
ENST00000543927.5:c.-152G>C	ENSP00000444433.1:n.-152G>C
NM_001113755.2:c.1021G>C (TYMP)	NP_001107227.1:p.Gly341Arg
NM_001113756.2:c.1021G>C (TYMP)	NP_001107228.1:p.Gly341Arg
NM_001169109.1:c.-152G>C (SCO2)	NP_001162580.1:n.-152G>C
NM_001257988.1:c.1021G>C , LRG_727t1:c.1021G>C (TYMP)	NP_001244917.1:p.Gly341Arg
NM_001257989.1:c.1021G>C , LRG_727t2:c.1021G>C (TYMP)	NP_001244918.1:p.Gly341Arg
NM_001953.4:c.1021G>C (TYMP)	NP_001944.1:p.Gly341Arg
NM_001113755.3:c.1021G>C (TYMP)	NP_001107227.1:p.Gly341Arg
NM_001113756.3:c.1021G>C (TYMP)	NP_001107228.1:p.Gly341Arg
NM_001953.5:c.1021G>C (TYMP) MANE Select	NP_001944.1:p.Gly341Arg
NM_001169109.2:c.-152G>C (SCO2)	NP_001162580.1:n.-152G>C