Canonical Allele Identifier: CA3263693
Gene: MOCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419958
dbSNP Id: rs780085174
gnomAD v2: 5-52397927-C-T
gnomAD v3: 5-53102097-C-T
gnomAD v4: 5-53102097-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53102097C>T , CM000667.2:g.53102097C>T GRCh38
NC_000005.9:g.52397927C>T , CM000667.1:g.52397927C>T GRCh37
NC_000005.8:g.52433684C>T NCBI36
NG_008435.2:g.12672G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.226G>A MANE Select ENSP00000380157.3:p.Gly76Arg
ENST00000450852.8:c.*146G>A MANE Plus Clinical ENSP00000411022.3:n.*146G>A
ENST00000361377.8:c.*146G>A ENSP00000355160.4:n.*146G>A
ENST00000396954.7:c.226G>A ENSP00000380157.3:p.Gly76Arg
ENST00000450852.7:c.*146G>A ENSP00000411022.3:n.*146G>A
ENST00000502402.5:n.1149G>A
ENST00000508922.5:c.*146G>A ENSP00000426274.1:n.*146G>A
ENST00000510818.6:c.*146G>A ENSP00000424267.2:n.*146G>A
ENST00000514553.2:n.411G>A
ENST00000527216.5:c.*146G>A ENSP00000435326.1:n.*146G>A
ENST00000582677.5:c.*19-1563G>A ENSP00000462870.1:n.*19-1563G>A
ENST00000584946.5:c.*19-588G>A ENSP00000464663.1:n.*19-588G>A
NM_004531.4:c.226G>A NP_004522.1:p.Gly76Arg
NM_176806.3:c.*146G>A NP_789776.1:n.*146G>A
NM_004531.5:c.226G>A MANE Select NP_004522.1:p.Gly76Arg
NM_176806.4:c.*146G>A MANE Plus Clinical NP_789776.1:n.*146G>A