Canonical Allele Identifier: CA1076105316

Gene: MOCS2

Linked Data

• dbSNP Id: rs1740812703
• gnomAD v3: 5-53098454-TCTTG-T
• gnomAD v4: 5-53098454-TCTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098458_53098461del , CM000667.2:g.53098458_53098461del	GRCh38
NC_000005.9:g.52394288_52394291del , CM000667.1:g.52394288_52394291del	GRCh37
NC_000005.8:g.52430045_52430048del	NCBI36
NG_008435.2:g.16311_16314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*144_*147del MANE Select	ENSP00000380157.3:n.*144_*147del
ENST00000450852.8:c.*631_*634del MANE Plus Clinical	ENSP00000411022.3:n.*631_*634del
ENST00000361377.8:c.*480_*483del	ENSP00000355160.4:n.*480_*483del
ENST00000396954.7:c.*144_*147del	ENSP00000380157.3:n.*144_*147del
ENST00000450852.7:c.*631_*634del	ENSP00000411022.3:n.*631_*634del
ENST00000502402.5:n.2458_2461del
ENST00000508922.5:c.*551_*554del	ENSP00000426274.1:n.*551_*554del
ENST00000510818.6:c.*584_*587del	ENSP00000424267.2:n.*584_*587del
ENST00000582677.5:c.*352_*355del	ENSP00000462870.1:n.*352_*355del
NM_004531.4:c.*144_*147del	NP_004522.1:n.*144_*147del
NM_176806.3:c.*631_*634del	NP_789776.1:n.*631_*634del
NM_004531.5:c.*144_*147del MANE Select	NP_004522.1:n.*144_*147del
NM_176806.4:c.*631_*634del MANE Plus Clinical	NP_789776.1:n.*631_*634del