Canonical Allele Identifier: CA3263701

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53102159G>C , CM000667.2:g.53102159G>C	GRCh38
NC_000005.9:g.52397989G>C , CM000667.1:g.52397989G>C	GRCh37
NC_000005.8:g.52433746G>C	NCBI36
NG_008435.2:g.12610C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.164C>G MANE Select	NP_004522.1:p.Ser55Ter
ENST00000396954.8:c.164C>G MANE Select	ENSP00000380157.3:p.Ser55Ter
NM_176806.4:c.*84C>G MANE Plus Clinical	NP_789776.1:n.*84C>G
ENST00000450852.8:c.*84C>G MANE Plus Clinical	ENSP00000411022.3:n.*84C>G
NM_004531.4:c.164C>G	NP_004522.1:p.Ser55Ter
NM_176806.3:c.*84C>G	NP_789776.1:n.*84C>G
ENST00000361377.8:c.*84C>G	ENSP00000355160.4:n.*84C>G
ENST00000396954.7:c.164C>G	ENSP00000380157.3:p.Ser55Ter
ENST00000450852.7:c.*84C>G	ENSP00000411022.3:n.*84C>G
ENST00000502402.5:n.1087C>G
ENST00000508922.5:c.*84C>G	ENSP00000426274.1:n.*84C>G
ENST00000510818.6:c.*84C>G	ENSP00000424267.2:n.*84C>G
ENST00000514553.2:n.349C>G
ENST00000527216.5:c.*84C>G	ENSP00000435326.1:n.*84C>G
ENST00000582677.5:c.*19-1625C>G	ENSP00000462870.1:n.*19-1625C>G
ENST00000584946.5:c.*19-650C>G	ENSP00000464663.1:n.*19-650C>G