Canonical Allele Identifier: CA1546395286
Gene: MOCS2 HGNC NCBI

Linked Data

dbSNP Id: rs1740812470
gnomAD v4: 5-53098450-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098450T>C , CM000667.2:g.53098450T>C GRCh38
NC_000005.9:g.52394280T>C , CM000667.1:g.52394280T>C GRCh37
NC_000005.8:g.52430037T>C NCBI36
NG_008435.2:g.16319A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.*152A>G MANE Select ENSP00000380157.3:n.*152A>G
ENST00000450852.8:c.*639A>G MANE Plus Clinical ENSP00000411022.3:n.*639A>G
ENST00000361377.8:c.*488A>G ENSP00000355160.4:n.*488A>G
ENST00000396954.7:c.*152A>G ENSP00000380157.3:n.*152A>G
ENST00000450852.7:c.*639A>G ENSP00000411022.3:n.*639A>G
ENST00000502402.5:n.2466A>G
ENST00000508922.5:c.*559A>G ENSP00000426274.1:n.*559A>G
ENST00000510818.6:c.*592A>G ENSP00000424267.2:n.*592A>G
ENST00000582677.5:c.*360A>G ENSP00000462870.1:n.*360A>G
NM_004531.4:c.*152A>G NP_004522.1:n.*152A>G
NM_176806.3:c.*639A>G NP_789776.1:n.*639A>G
NM_004531.5:c.*152A>G MANE Select NP_004522.1:n.*152A>G
NM_176806.4:c.*639A>G MANE Plus Clinical NP_789776.1:n.*639A>G