Canonical Allele Identifier: CA3263750
Community Standard Title: NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly)
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53107101T>C , CM000667.2:g.53107101T>C GRCh38
NC_000005.9:g.52402931T>C , CM000667.1:g.52402931T>C GRCh37
NC_000005.8:g.52438688T>C NCBI36
NG_008435.2:g.7668A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004531.5:c.74A>G MANE Select NP_004522.1:p.Glu25Gly
ENST00000396954.8:c.74A>G MANE Select ENSP00000380157.3:p.Glu25Gly
NM_176806.4:c.261A>G MANE Plus Clinical NP_789776.1:p.Gly87=
ENST00000450852.8:c.261A>G MANE Plus Clinical ENSP00000411022.3:p.Gly87=
NM_004531.4:c.74A>G NP_004522.1:p.Glu25Gly
NM_176806.3:c.261A>G NP_789776.1:p.Gly87=
ENST00000361377.8:c.261A>G ENSP00000355160.4:p.Gly87=
ENST00000396954.7:c.74A>G ENSP00000380157.3:p.Glu25Gly
ENST00000450852.7:c.261A>G ENSP00000411022.3:p.Gly87=
ENST00000502402.5:n.997A>G
ENST00000508922.5:c.261A>G ENSP00000426274.1:p.Gly87=
ENST00000510818.6:c.261A>G ENSP00000424267.2:p.Gly87=
ENST00000514553.2:n.259A>G
ENST00000527216.5:c.246A>G ENSP00000435326.1:p.Gly82=
ENST00000582677.5:c.261A>G ENSP00000462870.1:p.Gly87=
ENST00000584946.5:c.261A>G ENSP00000464663.1:p.Gly87=