Canonical Allele Identifier: CA118883920
Gene: MOCS2 HGNC NCBI

Linked Data

dbSNP Id: rs537483502
MyVariant Identifiers: chr5:g.53098451T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098451T>C , CM000667.2:g.53098451T>C GRCh38
NC_000005.9:g.52394281T>C , CM000667.1:g.52394281T>C GRCh37
NC_000005.8:g.52430038T>C NCBI36
NG_008435.2:g.16318A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*151A>G MANE Select ENSP00000380157.3:n.*151A>G
ENST00000450852.8:c.*638A>G MANE Plus Clinical ENSP00000411022.3:n.*638A>G
ENST00000361377.8:c.*487A>G ENSP00000355160.4:n.*487A>G
ENST00000396954.7:c.*151A>G ENSP00000380157.3:n.*151A>G
ENST00000450852.7:c.*638A>G ENSP00000411022.3:n.*638A>G
ENST00000502402.5:n.2465A>G
ENST00000508922.5:c.*558A>G ENSP00000426274.1:n.*558A>G
ENST00000510818.6:c.*591A>G ENSP00000424267.2:n.*591A>G
ENST00000582677.5:c.*359A>G ENSP00000462870.1:n.*359A>G
NM_004531.4:c.*151A>G NP_004522.1:n.*151A>G
NM_176806.3:c.*638A>G NP_789776.1:n.*638A>G
NM_004531.5:c.*151A>G MANE Select NP_004522.1:n.*151A>G
NM_176806.4:c.*638A>G MANE Plus Clinical NP_789776.1:n.*638A>G