Canonical Allele Identifier: CA1546395280

Gene: MOCS2

Linked Data

• dbSNP Id: rs1579930436

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098444T>A , CM000667.2:g.53098444T>A	GRCh38
NC_000005.9:g.52394274T>A , CM000667.1:g.52394274T>A	GRCh37
NC_000005.8:g.52430031T>A	NCBI36
NG_008435.2:g.16325A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*158A>T MANE Select	ENSP00000380157.3:n.*158A>T
ENST00000450852.8:c.*645A>T MANE Plus Clinical	ENSP00000411022.3:n.*645A>T
ENST00000361377.8:c.*494A>T	ENSP00000355160.4:n.*494A>T
ENST00000396954.7:c.*158A>T	ENSP00000380157.3:n.*158A>T
ENST00000450852.7:c.*645A>T	ENSP00000411022.3:n.*645A>T
ENST00000502402.5:n.2472A>T
ENST00000508922.5:c.*565A>T	ENSP00000426274.1:n.*565A>T
ENST00000510818.6:c.*598A>T	ENSP00000424267.2:n.*598A>T
ENST00000582677.5:c.*366A>T	ENSP00000462870.1:n.*366A>T
NM_004531.4:c.*158A>T	NP_004522.1:n.*158A>T
NM_176806.3:c.*645A>T	NP_789776.1:n.*645A>T
NM_004531.5:c.*158A>T MANE Select	NP_004522.1:n.*158A>T
NM_176806.4:c.*645A>T MANE Plus Clinical	NP_789776.1:n.*645A>T