Canonical Allele Identifier: CA359694283

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53109729T>C , CM000667.2:g.53109729T>C	GRCh38
NC_000005.9:g.52405559T>C , CM000667.1:g.52405559T>C	GRCh37
NC_000005.8:g.52441316T>C	NCBI36
NG_008435.2:g.5040A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.-648A>G MANE Select	NP_004522.1:n.-648A>G
ENST00000396954.8:c.-648A>G MANE Select	ENSP00000380157.3:n.-648A>G
NM_176806.4:c.1A>G MANE Plus Clinical	NP_789776.1:p.Met1Val
ENST00000450852.8:c.1A>G MANE Plus Clinical	ENSP00000411022.3:p.Met1Val
NM_004531.4:c.-648A>G	NP_004522.1:n.-648A>G
NM_176806.3:c.1A>G	NP_789776.1:p.Met1Val
ENST00000361377.8:c.1A>G	ENSP00000355160.4:p.Met1Val
ENST00000396954.7:c.-648A>G	ENSP00000380157.3:n.-648A>G
ENST00000450852.7:c.1A>G	ENSP00000411022.3:p.Met1Val
ENST00000508922.5:c.1A>G	ENSP00000426274.1:p.Met1Val
ENST00000510818.6:c.1A>G	ENSP00000424267.2:p.Met1Val
ENST00000527216.5:c.3+256A>G	ENSP00000435326.1:n.3+256A>G
ENST00000582677.5:c.1A>G	ENSP00000462870.1:p.Met1Val
ENST00000584946.5:c.1A>G	ENSP00000464663.1:p.Met1Val