Canonical Allele Identifier: CA913108942

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740818072
• MyVariant Identifiers: chr5:g.52394422A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098592A>C , CM000667.2:g.53098592A>C	GRCh38
NC_000005.9:g.52394422A>C , CM000667.1:g.52394422A>C	GRCh37
NC_000005.8:g.52430179A>C	NCBI36
NG_008435.2:g.16177T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*10T>G MANE Select	ENSP00000380157.3:n.*10T>G
ENST00000450852.8:c.*497T>G MANE Plus Clinical	ENSP00000411022.3:n.*497T>G
ENST00000361377.8:c.*346T>G	ENSP00000355160.4:n.*346T>G
ENST00000396954.7:c.*10T>G	ENSP00000380157.3:n.*10T>G
ENST00000450852.7:c.*497T>G	ENSP00000411022.3:n.*497T>G
ENST00000502402.5:n.2324T>G
ENST00000508922.5:c.*417T>G	ENSP00000426274.1:n.*417T>G
ENST00000510818.6:c.*450T>G	ENSP00000424267.2:n.*450T>G
ENST00000582677.5:c.*218T>G	ENSP00000462870.1:n.*218T>G
ENST00000584946.5:c.*369T>G	ENSP00000464663.1:n.*369T>G
NM_004531.4:c.*10T>G	NP_004522.1:n.*10T>G
NM_176806.3:c.*497T>G	NP_789776.1:n.*497T>G
NM_004531.5:c.*10T>G MANE Select	NP_004522.1:n.*10T>G
NM_176806.4:c.*497T>G MANE Plus Clinical	NP_789776.1:n.*497T>G