Canonical Allele Identifier: CA359693756

Gene: MOCS2

Linked Data

• dbSNP Id: rs1459340714
• gnomAD v4: 5-53107135-C-A
• MyVariant Identifiers: chr5:g.52402965C>A (hg19) ; chr5:g.53107135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107135C>A , CM000667.2:g.53107135C>A	GRCh38
NC_000005.9:g.52402965C>A , CM000667.1:g.52402965C>A	GRCh37
NC_000005.8:g.52438722C>A	NCBI36
NG_008435.2:g.7634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.40G>T MANE Select	ENSP00000380157.3:p.Glu14Ter
ENST00000450852.8:c.227G>T MANE Plus Clinical	ENSP00000411022.3:p.Gly76Val
ENST00000361377.8:c.227G>T	ENSP00000355160.4:p.Gly76Val
ENST00000396954.7:c.40G>T	ENSP00000380157.3:p.Glu14Ter
ENST00000450852.7:c.227G>T	ENSP00000411022.3:p.Gly76Val
ENST00000502402.5:n.963G>T
ENST00000508922.5:c.227G>T	ENSP00000426274.1:p.Gly76Val
ENST00000510818.6:c.227G>T	ENSP00000424267.2:p.Gly76Val
ENST00000514553.2:n.225G>T
ENST00000527216.5:c.212G>T	ENSP00000435326.1:p.Gly71Val
ENST00000582677.5:c.227G>T	ENSP00000462870.1:p.Gly76Val
ENST00000584946.5:c.227G>T	ENSP00000464663.1:p.Gly76Val
NM_004531.4:c.40G>T	NP_004522.1:p.Glu14Ter
NM_176806.3:c.227G>T	NP_789776.1:p.Gly76Val
NM_004531.5:c.40G>T MANE Select	NP_004522.1:p.Glu14Ter
NM_176806.4:c.227G>T MANE Plus Clinical	NP_789776.1:p.Gly76Val