Canonical Allele Identifier: CA359692970

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53101358C>T , CM000667.2:g.53101358C>T	GRCh38
NC_000005.9:g.52397188C>T , CM000667.1:g.52397188C>T	GRCh37
NC_000005.8:g.52432945C>T	NCBI36
NG_008435.2:g.13411G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.377+1G>A MANE Select	NP_004522.1:n.377+1G>A
ENST00000396954.8:c.377+1G>A MANE Select	ENSP00000380157.3:n.377+1G>A
NM_176806.4:c.*297+1G>A MANE Plus Clinical	NP_789776.1:n.*297+1G>A
ENST00000450852.8:c.*297+1G>A MANE Plus Clinical	ENSP00000411022.3:n.*297+1G>A
NM_004531.4:c.377+1G>A	NP_004522.1:n.377+1G>A
NM_176806.3:c.*297+1G>A	NP_789776.1:n.*297+1G>A
ENST00000361377.8:c.*146+739G>A	ENSP00000355160.4:n.*146+739G>A
ENST00000396954.7:c.377+1G>A	ENSP00000380157.3:n.377+1G>A
ENST00000450852.7:c.*297+1G>A	ENSP00000411022.3:n.*297+1G>A
ENST00000502402.5:n.1301G>A
ENST00000508922.5:c.*297+1G>A	ENSP00000426274.1:n.*297+1G>A
ENST00000510818.6:c.*297+1G>A	ENSP00000424267.2:n.*297+1G>A
ENST00000514553.2:n.563G>A
ENST00000527216.5:c.*297+1G>A	ENSP00000435326.1:n.*297+1G>A
ENST00000582677.5:c.*19-824G>A	ENSP00000462870.1:n.*19-824G>A
ENST00000584946.5:c.*169+1G>A	ENSP00000464663.1:n.*169+1G>A