Canonical Allele Identifier: CA359692587

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394455A>C (hg19) ; chr5:g.53098625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098625A>C , CM000667.2:g.53098625A>C	GRCh38
NC_000005.9:g.52394455A>C , CM000667.1:g.52394455A>C	GRCh37
NC_000005.8:g.52430212A>C	NCBI36
NG_008435.2:g.16144T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.544T>G MANE Select	ENSP00000380157.3:p.Cys182Gly
ENST00000450852.8:c.*464T>G MANE Plus Clinical	ENSP00000411022.3:n.*464T>G
ENST00000361377.8:c.*313T>G	ENSP00000355160.4:n.*313T>G
ENST00000396954.7:c.544T>G	ENSP00000380157.3:p.Cys182Gly
ENST00000450852.7:c.*464T>G	ENSP00000411022.3:n.*464T>G
ENST00000502402.5:n.2291T>G
ENST00000508922.5:c.*384T>G	ENSP00000426274.1:n.*384T>G
ENST00000510818.6:c.*417T>G	ENSP00000424267.2:n.*417T>G
ENST00000582677.5:c.*185T>G	ENSP00000462870.1:n.*185T>G
ENST00000584946.5:c.*336T>G	ENSP00000464663.1:n.*336T>G
NM_004531.4:c.544T>G	NP_004522.1:p.Cys182Gly
NM_176806.3:c.*464T>G	NP_789776.1:n.*464T>G
NM_004531.5:c.544T>G MANE Select	NP_004522.1:p.Cys182Gly
NM_176806.4:c.*464T>G MANE Plus Clinical	NP_789776.1:n.*464T>G