Canonical Allele Identifier: CA2673822522

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098522-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098522G>T , CM000667.2:g.53098522G>T	GRCh38
NC_000005.9:g.52394352G>T , CM000667.1:g.52394352G>T	GRCh37
NC_000005.8:g.52430109G>T	NCBI36
NG_008435.2:g.16247C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*80C>A MANE Select	ENSP00000380157.3:n.*80C>A
ENST00000450852.8:c.*567C>A MANE Plus Clinical	ENSP00000411022.3:n.*567C>A
ENST00000361377.8:c.*416C>A	ENSP00000355160.4:n.*416C>A
ENST00000396954.7:c.*80C>A	ENSP00000380157.3:n.*80C>A
ENST00000450852.7:c.*567C>A	ENSP00000411022.3:n.*567C>A
ENST00000502402.5:n.2394C>A
ENST00000508922.5:c.*487C>A	ENSP00000426274.1:n.*487C>A
ENST00000510818.6:c.*520C>A	ENSP00000424267.2:n.*520C>A
ENST00000582677.5:c.*288C>A	ENSP00000462870.1:n.*288C>A
NM_004531.4:c.*80C>A	NP_004522.1:n.*80C>A
NM_176806.3:c.*567C>A	NP_789776.1:n.*567C>A
NM_004531.5:c.*80C>A MANE Select	NP_004522.1:n.*80C>A
NM_176806.4:c.*567C>A MANE Plus Clinical	NP_789776.1:n.*567C>A