Canonical Allele Identifier: CA359693699

Gene: MOCS2

Linked Data

• dbSNP Id: rs115658519
• gnomAD v2: 5-52402943-G-A
• gnomAD v4: 5-53107113-G-A
• MyVariant Identifiers: chr5:g.52402943G>A (hg19) ; chr5:g.53107113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107113G>A , CM000667.2:g.53107113G>A	GRCh38
NC_000005.9:g.52402943G>A , CM000667.1:g.52402943G>A	GRCh37
NC_000005.8:g.52438700G>A	NCBI36
NG_008435.2:g.7656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.62C>T MANE Select	ENSP00000380157.3:p.Pro21Leu
ENST00000450852.8:c.249C>T MANE Plus Clinical	ENSP00000411022.3:p.Pro83=
ENST00000361377.8:c.249C>T	ENSP00000355160.4:p.Pro83=
ENST00000396954.7:c.62C>T	ENSP00000380157.3:p.Pro21Leu
ENST00000450852.7:c.249C>T	ENSP00000411022.3:p.Pro83=
ENST00000502402.5:n.985C>T
ENST00000508922.5:c.249C>T	ENSP00000426274.1:p.Pro83=
ENST00000510818.6:c.249C>T	ENSP00000424267.2:p.Pro83=
ENST00000514553.2:n.247C>T
ENST00000527216.5:c.234C>T	ENSP00000435326.1:p.Pro78=
ENST00000582677.5:c.249C>T	ENSP00000462870.1:p.Pro83=
ENST00000584946.5:c.249C>T	ENSP00000464663.1:p.Pro83=
NM_004531.4:c.62C>T	NP_004522.1:p.Pro21Leu
NM_176806.3:c.249C>T	NP_789776.1:p.Pro83=
NM_004531.5:c.62C>T MANE Select	NP_004522.1:p.Pro21Leu
NM_176806.4:c.249C>T MANE Plus Clinical	NP_789776.1:p.Pro83=