Canonical Allele Identifier: CA412197937

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs2069377884
• gnomAD v4: 22-50526387-G-C
• MyVariant Identifiers: chr22:g.50964816G>C (hg19) ; chr22:g.50526387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526387G>C , CM000684.2:g.50526387G>C	GRCh38
NC_000022.10:g.50964816G>C , CM000684.1:g.50964816G>C	GRCh37
NC_000022.9:g.49311682G>C	NCBI36
NG_011860.1:g.8699C>G , LRG_727:g.8699C>G
NG_016235.1:g.5053C>G
NG_021419.1:g.23172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1018C>G (TYMP) MANE Select	ENSP00000252029.3:p.Leu340Val
ENST00000395680.6:c.1018C>G (TYMP)	ENSP00000379037.1:p.Leu340Val
ENST00000395681.6:c.1018C>G (TYMP)	ENSP00000379038.1:p.Leu340Val
ENST00000543927.6:c.-155C>G (SCO2)	ENSP00000444433.1:n.-155C>G
ENST00000650719.1:c.899C>G (TYMP)	ENSP00000498276.1:p.Pro300Arg
ENST00000651401.1:c.502C>G (TYMP)	ENSP00000499115.1:p.Leu168Val
ENST00000652401.1:c.519C>G (TYMP)
ENST00000252029.7:c.1018C>G (TYMP)	ENSP00000252029.3:p.Leu340Val
ENST00000395678.7:c.1018C>G (TYMP)	ENSP00000379036.3:p.Leu340Val
ENST00000395680.5:c.1018C>G (TYMP)	ENSP00000379037.1:p.Leu340Val
ENST00000395681.5:c.1018C>G (TYMP)	ENSP00000379038.1:p.Leu340Val
ENST00000423348.1:c.-155C>G	ENSP00000403570.1:n.-155C>G
ENST00000425169.1:c.919C>G (TYMP)	ENSP00000395875.1:p.Leu307Val
ENST00000476284.1:n.1024C>G (TYMP)
ENST00000487577.5:n.1305C>G (TYMP)
ENST00000543927.5:c.-155C>G	ENSP00000444433.1:n.-155C>G
NM_001113755.2:c.1018C>G (TYMP)	NP_001107227.1:p.Leu340Val
NM_001113756.2:c.1018C>G (TYMP)	NP_001107228.1:p.Leu340Val
NM_001169109.1:c.-155C>G (SCO2)	NP_001162580.1:n.-155C>G
NM_001257988.1:c.1018C>G , LRG_727t1:c.1018C>G (TYMP)	NP_001244917.1:p.Leu340Val
NM_001257989.1:c.1018C>G , LRG_727t2:c.1018C>G (TYMP)	NP_001244918.1:p.Leu340Val
NM_001953.4:c.1018C>G (TYMP)	NP_001944.1:p.Leu340Val
NM_001113755.3:c.1018C>G (TYMP)	NP_001107227.1:p.Leu340Val
NM_001113756.3:c.1018C>G (TYMP)	NP_001107228.1:p.Leu340Val
NM_001953.5:c.1018C>G (TYMP) MANE Select	NP_001944.1:p.Leu340Val
NM_001169109.2:c.-155C>G (SCO2)	NP_001162580.1:n.-155C>G