Canonical Allele Identifier: CA2580073340

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 1953923
• ClinVar RCV Id: RCV002714903
• gnomAD v4: 5-53098674-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098674A>T , CM000667.2:g.53098674A>T	GRCh38
NC_000005.9:g.52394504A>T , CM000667.1:g.52394504A>T	GRCh37
NC_000005.8:g.52430261A>T	NCBI36
NG_008435.2:g.16095T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-7T>A MANE Select	ENSP00000380157.3:n.502-7T>A
ENST00000450852.8:c.*422-7T>A MANE Plus Clinical	ENSP00000411022.3:n.*422-7T>A
ENST00000361377.8:c.*271-7T>A	ENSP00000355160.4:n.*271-7T>A
ENST00000396954.7:c.502-7T>A	ENSP00000380157.3:n.502-7T>A
ENST00000450852.7:c.*422-7T>A	ENSP00000411022.3:n.*422-7T>A
ENST00000502402.5:n.2249-7T>A
ENST00000508922.5:c.*335T>A	ENSP00000426274.1:n.*335T>A
ENST00000510818.6:c.*375-7T>A	ENSP00000424267.2:n.*375-7T>A
ENST00000582677.5:c.*143-7T>A	ENSP00000462870.1:n.*143-7T>A
ENST00000584946.5:c.*294-7T>A	ENSP00000464663.1:n.*294-7T>A
NM_004531.4:c.502-7T>A	NP_004522.1:n.502-7T>A
NM_176806.3:c.*422-7T>A	NP_789776.1:n.*422-7T>A
NM_004531.5:c.502-7T>A MANE Select	NP_004522.1:n.502-7T>A
NM_176806.4:c.*422-7T>A MANE Plus Clinical	NP_789776.1:n.*422-7T>A