Canonical Allele Identifier: CA3263579

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 2197042
• ClinVar RCV Id: RCV002624641
• dbSNP Id: rs768042301
• ExAC: 5:52394444 T / A
• gnomAD v2: 5-52394444-T-A
• gnomAD v3: 5-53098614-T-A
• gnomAD v4: 5-53098614-T-A
• MyVariant Identifiers: chr5:g.52394444T>A (hg19) ; chr5:g.53098614T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098614T>A , CM000667.2:g.53098614T>A	GRCh38
NC_000005.9:g.52394444T>A , CM000667.1:g.52394444T>A	GRCh37
NC_000005.8:g.52430201T>A	NCBI36
NG_008435.2:g.16155A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.555A>T MANE Select	ENSP00000380157.3:p.Ala185=
ENST00000450852.8:c.*475A>T MANE Plus Clinical	ENSP00000411022.3:n.*475A>T
ENST00000361377.8:c.*324A>T	ENSP00000355160.4:n.*324A>T
ENST00000396954.7:c.555A>T	ENSP00000380157.3:p.Ala185=
ENST00000450852.7:c.*475A>T	ENSP00000411022.3:n.*475A>T
ENST00000502402.5:n.2302A>T
ENST00000508922.5:c.*395A>T	ENSP00000426274.1:n.*395A>T
ENST00000510818.6:c.*428A>T	ENSP00000424267.2:n.*428A>T
ENST00000582677.5:c.*196A>T	ENSP00000462870.1:n.*196A>T
ENST00000584946.5:c.*347A>T	ENSP00000464663.1:n.*347A>T
NM_004531.4:c.555A>T	NP_004522.1:p.Ala185=
NM_176806.3:c.*475A>T	NP_789776.1:n.*475A>T
NM_004531.5:c.555A>T MANE Select	NP_004522.1:p.Ala185=
NM_176806.4:c.*475A>T MANE Plus Clinical	NP_789776.1:n.*475A>T