Canonical Allele Identifier: CA359694248

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53109711C>G , CM000667.2:g.53109711C>G	GRCh38
NC_000005.9:g.52405541C>G , CM000667.1:g.52405541C>G	GRCh37
NC_000005.8:g.52441298C>G	NCBI36
NG_008435.2:g.5058G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.-630G>C MANE Select	NP_004522.1:n.-630G>C
ENST00000396954.8:c.-630G>C MANE Select	ENSP00000380157.3:n.-630G>C
NM_176806.4:c.18+1G>C MANE Plus Clinical	NP_789776.1:n.18+1G>C
ENST00000450852.8:c.18+1G>C MANE Plus Clinical	ENSP00000411022.3:n.18+1G>C
NM_004531.4:c.-630G>C	NP_004522.1:n.-630G>C
NM_176806.3:c.18+1G>C	NP_789776.1:n.18+1G>C
ENST00000361377.8:c.18+1G>C	ENSP00000355160.4:n.18+1G>C
ENST00000396954.7:c.-630G>C	ENSP00000380157.3:n.-630G>C
ENST00000450852.7:c.18+1G>C	ENSP00000411022.3:n.18+1G>C
ENST00000508922.5:c.18+1G>C	ENSP00000426274.1:n.18+1G>C
ENST00000510818.6:c.18+1G>C	ENSP00000424267.2:n.18+1G>C
ENST00000514553.2:n.16+1G>C
ENST00000527216.5:c.3+274G>C	ENSP00000435326.1:n.3+274G>C
ENST00000582677.5:c.18+1G>C	ENSP00000462870.1:n.18+1G>C
ENST00000584946.5:c.18+1G>C	ENSP00000464663.1:n.18+1G>C