Canonical Allele Identifier: CA359692598

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394459T>A (hg19) ; chr5:g.53098629T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098629T>A , CM000667.2:g.53098629T>A	GRCh38
NC_000005.9:g.52394459T>A , CM000667.1:g.52394459T>A	GRCh37
NC_000005.8:g.52430216T>A	NCBI36
NG_008435.2:g.16140A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.540A>T MANE Select	ENSP00000380157.3:p.Lys180Asn
ENST00000450852.8:c.*460A>T MANE Plus Clinical	ENSP00000411022.3:n.*460A>T
ENST00000361377.8:c.*309A>T	ENSP00000355160.4:n.*309A>T
ENST00000396954.7:c.540A>T	ENSP00000380157.3:p.Lys180Asn
ENST00000450852.7:c.*460A>T	ENSP00000411022.3:n.*460A>T
ENST00000502402.5:n.2287A>T
ENST00000508922.5:c.*380A>T	ENSP00000426274.1:n.*380A>T
ENST00000510818.6:c.*413A>T	ENSP00000424267.2:n.*413A>T
ENST00000582677.5:c.*181A>T	ENSP00000462870.1:n.*181A>T
ENST00000584946.5:c.*332A>T	ENSP00000464663.1:n.*332A>T
NM_004531.4:c.540A>T	NP_004522.1:p.Lys180Asn
NM_176806.3:c.*460A>T	NP_789776.1:n.*460A>T
NM_004531.5:c.540A>T MANE Select	NP_004522.1:p.Lys180Asn
NM_176806.4:c.*460A>T MANE Plus Clinical	NP_789776.1:n.*460A>T