Canonical Allele Identifier: CA444164221

Gene: MOCS2

Linked Data

• dbSNP Id: rs1300525260
• gnomAD v4: 5-53098603-T-C
• MyVariant Identifiers: chr5:g.52394433T>C (hg19) ; chr5:g.53098603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098603T>C , CM000667.2:g.53098603T>C	GRCh38
NC_000005.9:g.52394433T>C , CM000667.1:g.52394433T>C	GRCh37
NC_000005.8:g.52430190T>C	NCBI36
NG_008435.2:g.16166A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.566A>G MANE Select	ENSP00000380157.3:p.Ter189=
ENST00000450852.8:c.*486A>G MANE Plus Clinical	ENSP00000411022.3:n.*486A>G
ENST00000361377.8:c.*335A>G	ENSP00000355160.4:n.*335A>G
ENST00000396954.7:c.566A>G	ENSP00000380157.3:p.Ter189=
ENST00000450852.7:c.*486A>G	ENSP00000411022.3:n.*486A>G
ENST00000502402.5:n.2313A>G
ENST00000508922.5:c.*406A>G	ENSP00000426274.1:n.*406A>G
ENST00000510818.6:c.*439A>G	ENSP00000424267.2:n.*439A>G
ENST00000582677.5:c.*207A>G	ENSP00000462870.1:n.*207A>G
ENST00000584946.5:c.*358A>G	ENSP00000464663.1:n.*358A>G
NM_004531.4:c.566A>G	NP_004522.1:p.Ter189=
NM_176806.3:c.*486A>G	NP_789776.1:n.*486A>G
NM_004531.5:c.566A>G MANE Select	NP_004522.1:p.Ter189=
NM_176806.4:c.*486A>G MANE Plus Clinical	NP_789776.1:n.*486A>G