Canonical Allele Identifier: CA812031514

Gene: MOCS2

Linked Data

• dbSNP Id: rs1457900400
• MyVariant Identifiers: chr5:g.52394377A>C (hg19) ; chr5:g.53098547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098547A>C , CM000667.2:g.53098547A>C	GRCh38
NC_000005.9:g.52394377A>C , CM000667.1:g.52394377A>C	GRCh37
NC_000005.8:g.52430134A>C	NCBI36
NG_008435.2:g.16222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*55T>G MANE Select	ENSP00000380157.3:n.*55T>G
ENST00000450852.8:c.*542T>G MANE Plus Clinical	ENSP00000411022.3:n.*542T>G
ENST00000361377.8:c.*391T>G	ENSP00000355160.4:n.*391T>G
ENST00000396954.7:c.*55T>G	ENSP00000380157.3:n.*55T>G
ENST00000450852.7:c.*542T>G	ENSP00000411022.3:n.*542T>G
ENST00000502402.5:n.2369T>G
ENST00000508922.5:c.*462T>G	ENSP00000426274.1:n.*462T>G
ENST00000510818.6:c.*495T>G	ENSP00000424267.2:n.*495T>G
ENST00000582677.5:c.*263T>G	ENSP00000462870.1:n.*263T>G
ENST00000584946.5:c.*414T>G	ENSP00000464663.1:n.*414T>G
NM_004531.4:c.*55T>G	NP_004522.1:n.*55T>G
NM_176806.3:c.*542T>G	NP_789776.1:n.*542T>G
NM_004531.5:c.*55T>G MANE Select	NP_004522.1:n.*55T>G
NM_176806.4:c.*542T>G MANE Plus Clinical	NP_789776.1:n.*542T>G