Canonical Allele Identifier: CA359693698

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53107112-G-A
• COSMIC: COSM228064
• MyVariant Identifiers: chr5:g.52402942G>A (hg19) ; chr5:g.53107112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107112G>A , CM000667.2:g.53107112G>A	GRCh38
NC_000005.9:g.52402942G>A , CM000667.1:g.52402942G>A	GRCh37
NC_000005.8:g.52438699G>A	NCBI36
NG_008435.2:g.7657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.63C>T MANE Select	ENSP00000380157.3:p.Pro21=
ENST00000450852.8:c.250C>T MANE Plus Clinical	ENSP00000411022.3:p.Pro84Ser
ENST00000361377.8:c.250C>T	ENSP00000355160.4:p.Pro84Ser
ENST00000396954.7:c.63C>T	ENSP00000380157.3:p.Pro21=
ENST00000450852.7:c.250C>T	ENSP00000411022.3:p.Pro84Ser
ENST00000502402.5:n.986C>T
ENST00000508922.5:c.250C>T	ENSP00000426274.1:p.Pro84Ser
ENST00000510818.6:c.250C>T	ENSP00000424267.2:p.Pro84Ser
ENST00000514553.2:n.248C>T
ENST00000527216.5:c.235C>T	ENSP00000435326.1:p.Pro79Ser
ENST00000582677.5:c.250C>T	ENSP00000462870.1:p.Pro84Ser
ENST00000584946.5:c.250C>T	ENSP00000464663.1:p.Pro84Ser
NM_004531.4:c.63C>T	NP_004522.1:p.Pro21=
NM_176806.3:c.250C>T	NP_789776.1:p.Pro84Ser
NM_004531.5:c.63C>T MANE Select	NP_004522.1:p.Pro21=
NM_176806.4:c.250C>T MANE Plus Clinical	NP_789776.1:p.Pro84Ser