Canonical Allele Identifier: CA117947

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 6113
• ClinVar RCV Id: RCV000006487 ; RCV000721967 ; RCV001851698
• dbSNP Id: rs121908607
• ExAC: 5:52405544 G / A
• gnomAD v2: 5-52405544-G-A
• gnomAD v3: 5-53109714-G-A
• gnomAD v4: 5-53109714-G-A
• COSMIC: COSM6355671
• MyVariant Identifiers: chr5:g.52405544G>A (hg19) ; chr5:g.53109714G>A (hg38)
• PubMed: PMID:11746050

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53109714G>A , CM000667.2:g.53109714G>A	GRCh38
NC_000005.9:g.52405544G>A , CM000667.1:g.52405544G>A	GRCh37
NC_000005.8:g.52441301G>A	NCBI36
NG_008435.2:g.5055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.-633C>T MANE Select	ENSP00000380157.3:n.-633C>T
ENST00000450852.8:c.16C>T MANE Plus Clinical	ENSP00000411022.3:p.Gln6Ter
ENST00000361377.8:c.16C>T	ENSP00000355160.4:p.Gln6Ter
ENST00000396954.7:c.-633C>T	ENSP00000380157.3:n.-633C>T
ENST00000450852.7:c.16C>T	ENSP00000411022.3:p.Gln6Ter
ENST00000508922.5:c.16C>T	ENSP00000426274.1:p.Gln6Ter
ENST00000510818.6:c.16C>T	ENSP00000424267.2:p.Gln6Ter
ENST00000514553.2:n.14C>T
ENST00000527216.5:c.3+271C>T	ENSP00000435326.1:n.3+271C>T
ENST00000582677.5:c.16C>T	ENSP00000462870.1:p.Gln6Ter
ENST00000584946.5:c.16C>T	ENSP00000464663.1:p.Gln6Ter
NM_004531.4:c.-633C>T	NP_004522.1:n.-633C>T
NM_176806.3:c.16C>T	NP_789776.1:p.Gln6Ter
NM_004531.5:c.-633C>T MANE Select	NP_004522.1:n.-633C>T
NM_176806.4:c.16C>T MANE Plus Clinical	NP_789776.1:p.Gln6Ter