Canonical Allele Identifier: CA2410907575

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526037C= , CM000684.2:g.50526037C=	GRCh38
NC_000022.10:g.50964466C= , CM000684.1:g.50964466C=	GRCh37
NC_000022.9:g.49311332C=	NCBI36
NG_011860.1:g.9049G= , LRG_727:g.9049G=
NG_016235.1:g.5403G=
NG_021419.1:g.22822C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1264G= (TYMP) MANE Select	ENSP00000252029.3:p.Glu422=
ENST00000395680.6:c.1264G= (TYMP)	ENSP00000379037.1:p.Glu422=
ENST00000395681.6:c.1279G= (TYMP)	ENSP00000379038.1:p.Glu427=
ENST00000543927.6:c.-14+209G= (SCO2)	ENSP00000444433.1:n.-14+209G=
ENST00000638598.2:c.-50G= (SCO2)	ENSP00000491753.2:n.-50G=
ENST00000651490.1:c.93-119G= (TYMP)
ENST00000652401.1:c.765G= (TYMP)
ENST00000252029.7:c.1264G= (TYMP)	ENSP00000252029.3:p.Glu422=
ENST00000395678.7:c.1264G= (TYMP)	ENSP00000379036.3:p.Glu422=
ENST00000395680.5:c.1264G= (TYMP)	ENSP00000379037.1:p.Glu422=
ENST00000395681.5:c.1279G= (TYMP)	ENSP00000379038.1:p.Glu427=
ENST00000423348.1:c.-14+209G=	ENSP00000403570.1:n.-14+209G=
ENST00000425169.1:c.1165G= (TYMP)	ENSP00000395875.1:p.Glu389=
ENST00000439934.5:c.-50G=	ENSP00000415642.1:n.-50G=
ENST00000476284.1:n.1374G= (TYMP)
ENST00000487577.5:n.1551G= (TYMP)
ENST00000535425.5:c.-50G=	ENSP00000444242.1:n.-50G=
ENST00000543927.5:c.-14+209G=	ENSP00000444433.1:n.-14+209G=
NM_001113755.2:c.1264G= (TYMP)	NP_001107227.1:p.Glu422=
NM_001113756.2:c.1264G= (TYMP)	NP_001107228.1:p.Glu422=
NM_001169109.1:c.-14+209G= (SCO2)	NP_001162580.1:n.-14+209G=
NM_001169110.1:c.-50G= (SCO2)	NP_001162581.1:n.-50G=
NM_001257988.1:c.1264G= , LRG_727t1:c.1264G= (TYMP)	NP_001244917.1:p.Glu422=
NM_001257989.1:c.1279G= , LRG_727t2:c.1279G= (TYMP)	NP_001244918.1:p.Glu427=
NM_001953.4:c.1264G= (TYMP)	NP_001944.1:p.Glu422=
NM_001113755.3:c.1264G= (TYMP)	NP_001107227.1:p.Glu422=
NM_001113756.3:c.1264G= (TYMP)	NP_001107228.1:p.Glu422=
NM_001953.5:c.1264G= (TYMP) MANE Select	NP_001944.1:p.Glu422=
NM_001169109.2:c.-14+209G= (SCO2)	NP_001162580.1:n.-14+209G=