Canonical Allele Identifier: CA2578308041

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53102007C>T , CM000667.2:g.53102007C>T	GRCh38
NC_000005.9:g.52397837C>T , CM000667.1:g.52397837C>T	GRCh37
NC_000005.8:g.52433594C>T	NCBI36
NG_008435.2:g.12762G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.226+90G>A MANE Select	ENSP00000380157.3:n.226+90G>A
ENST00000450852.8:c.*146+90G>A MANE Plus Clinical	ENSP00000411022.3:n.*146+90G>A
ENST00000361377.8:c.*146+90G>A	ENSP00000355160.4:n.*146+90G>A
ENST00000396954.7:c.226+90G>A	ENSP00000380157.3:n.226+90G>A
ENST00000450852.7:c.*146+90G>A	ENSP00000411022.3:n.*146+90G>A
ENST00000502402.5:n.1149+90G>A
ENST00000508922.5:c.*146+90G>A	ENSP00000426274.1:n.*146+90G>A
ENST00000510818.6:c.*146+90G>A	ENSP00000424267.2:n.*146+90G>A
ENST00000514553.2:n.411+90G>A
ENST00000527216.5:c.*146+90G>A	ENSP00000435326.1:n.*146+90G>A
ENST00000582677.5:c.*19-1473G>A	ENSP00000462870.1:n.*19-1473G>A
ENST00000584946.5:c.*19-498G>A	ENSP00000464663.1:n.*19-498G>A
NM_004531.4:c.226+90G>A	NP_004522.1:n.226+90G>A
NM_176806.3:c.*146+90G>A	NP_789776.1:n.*146+90G>A
NM_004531.5:c.226+90G>A MANE Select	NP_004522.1:n.226+90G>A
NM_176806.4:c.*146+90G>A MANE Plus Clinical	NP_789776.1:n.*146+90G>A