Canonical Allele Identifier: CA359692546

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098607-T-C
• MyVariant Identifiers: chr5:g.52394437T>C (hg19) ; chr5:g.53098607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098607T>C , CM000667.2:g.53098607T>C	GRCh38
NC_000005.9:g.52394437T>C , CM000667.1:g.52394437T>C	GRCh37
NC_000005.8:g.52430194T>C	NCBI36
NG_008435.2:g.16162A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.562A>G MANE Select	ENSP00000380157.3:p.Ser188Gly
ENST00000450852.8:c.*482A>G MANE Plus Clinical	ENSP00000411022.3:n.*482A>G
ENST00000361377.8:c.*331A>G	ENSP00000355160.4:n.*331A>G
ENST00000396954.7:c.562A>G	ENSP00000380157.3:p.Ser188Gly
ENST00000450852.7:c.*482A>G	ENSP00000411022.3:n.*482A>G
ENST00000502402.5:n.2309A>G
ENST00000508922.5:c.*402A>G	ENSP00000426274.1:n.*402A>G
ENST00000510818.6:c.*435A>G	ENSP00000424267.2:n.*435A>G
ENST00000582677.5:c.*203A>G	ENSP00000462870.1:n.*203A>G
ENST00000584946.5:c.*354A>G	ENSP00000464663.1:n.*354A>G
NM_004531.4:c.562A>G	NP_004522.1:p.Ser188Gly
NM_176806.3:c.*482A>G	NP_789776.1:n.*482A>G
NM_004531.5:c.562A>G MANE Select	NP_004522.1:p.Ser188Gly
NM_176806.4:c.*482A>G MANE Plus Clinical	NP_789776.1:n.*482A>G