Canonical Allele Identifier: CA515387583

Gene: TYMP SCO2

Linked Data

• MyVariant Identifiers: chr22:g.50964748C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526319C>G , CM000684.2:g.50526319C>G	GRCh38
NC_000022.10:g.50964748C>G , CM000684.1:g.50964748C>G	GRCh37
NC_000022.9:g.49311614C>G	NCBI36
NG_011860.1:g.8767G>C , LRG_727:g.8767G>C
NG_016235.1:g.5121G>C
NG_021419.1:g.23104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1086G>C (TYMP) MANE Select	ENSP00000252029.3:p.Ser362=
ENST00000395680.6:c.1086G>C (TYMP)	ENSP00000379037.1:p.Ser362=
ENST00000395681.6:c.1086G>C (TYMP)	ENSP00000379038.1:p.Ser362=
ENST00000543927.6:c.-87G>C (SCO2)	ENSP00000444433.1:n.-87G>C
ENST00000650719.1:c.967G>C (TYMP)	ENSP00000498276.1:p.Gly323Arg
ENST00000651490.1:c.19G>C (TYMP)
ENST00000652401.1:c.587G>C (TYMP)
ENST00000252029.7:c.1086G>C (TYMP)	ENSP00000252029.3:p.Ser362=
ENST00000395678.7:c.1086G>C (TYMP)	ENSP00000379036.3:p.Ser362=
ENST00000395680.5:c.1086G>C (TYMP)	ENSP00000379037.1:p.Ser362=
ENST00000395681.5:c.1086G>C (TYMP)	ENSP00000379038.1:p.Ser362=
ENST00000423348.1:c.-87G>C	ENSP00000403570.1:n.-87G>C
ENST00000425169.1:c.987G>C (TYMP)	ENSP00000395875.1:p.Ser329=
ENST00000476284.1:n.1092G>C (TYMP)
ENST00000487577.5:n.1373G>C (TYMP)
ENST00000543927.5:c.-87G>C	ENSP00000444433.1:n.-87G>C
NM_001113755.2:c.1086G>C (TYMP)	NP_001107227.1:p.Ser362=
NM_001113756.2:c.1086G>C (TYMP)	NP_001107228.1:p.Ser362=
NM_001169109.1:c.-87G>C (SCO2)	NP_001162580.1:n.-87G>C
NM_001257988.1:c.1086G>C , LRG_727t1:c.1086G>C (TYMP)	NP_001244917.1:p.Ser362=
NM_001257989.1:c.1086G>C , LRG_727t2:c.1086G>C (TYMP)	NP_001244918.1:p.Ser362=
NM_001953.4:c.1086G>C (TYMP)	NP_001944.1:p.Ser362=
NM_001113755.3:c.1086G>C (TYMP)	NP_001107227.1:p.Ser362=
NM_001113756.3:c.1086G>C (TYMP)	NP_001107228.1:p.Ser362=
NM_001953.5:c.1086G>C (TYMP) MANE Select	NP_001944.1:p.Ser362=
NM_001169109.2:c.-87G>C (SCO2)	NP_001162580.1:n.-87G>C