Canonical Allele Identifier: CA2673822563

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098676-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098679_53098680del , CM000667.2:g.53098679_53098680del	GRCh38
NC_000005.9:g.52394509_52394510del , CM000667.1:g.52394509_52394510del	GRCh37
NC_000005.8:g.52430266_52430267del	NCBI36
NG_008435.2:g.16091_16092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-11_502-10del MANE Select	ENSP00000380157.3:n.502-11_502-10del
ENST00000450852.8:c.*422-11_*422-10del MANE Plus Clinical	ENSP00000411022.3:n.*422-11_*422-10del
ENST00000361377.8:c.*271-11_*271-10del	ENSP00000355160.4:n.*271-11_*271-10del
ENST00000396954.7:c.502-11_502-10del	ENSP00000380157.3:n.502-11_502-10del
ENST00000450852.7:c.*422-11_*422-10del	ENSP00000411022.3:n.*422-11_*422-10del
ENST00000502402.5:n.2249-11_2249-10del
ENST00000508922.5:c.*331_*332del	ENSP00000426274.1:n.*331_*332del
ENST00000510818.6:c.*375-11_*375-10del	ENSP00000424267.2:n.*375-11_*375-10del
ENST00000582677.5:c.*143-11_*143-10del	ENSP00000462870.1:n.*143-11_*143-10del
ENST00000584946.5:c.*294-11_*294-10del	ENSP00000464663.1:n.*294-11_*294-10del
NM_004531.4:c.502-11_502-10del	NP_004522.1:n.502-11_502-10del
NM_176806.3:c.*422-11_*422-10del	NP_789776.1:n.*422-11_*422-10del
NM_004531.5:c.502-11_502-10del MANE Select	NP_004522.1:n.502-11_502-10del
NM_176806.4:c.*422-11_*422-10del MANE Plus Clinical	NP_789776.1:n.*422-11_*422-10del