Canonical Allele Identifier: CA812036771

Gene: MOCS2

Linked Data

• dbSNP Id: rs1388996321
• gnomAD v4: 5-53107020-T-G
• MyVariant Identifiers: chr5:g.52402850T>G (hg19) ; chr5:g.53107020T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107020T>G , CM000667.2:g.53107020T>G	GRCh38
NC_000005.9:g.52402850T>G , CM000667.1:g.52402850T>G	GRCh37
NC_000005.8:g.52438607T>G	NCBI36
NG_008435.2:g.7749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.98+57A>C MANE Select	ENSP00000380157.3:n.98+57A>C
ENST00000450852.8:c.*18+57A>C MANE Plus Clinical	ENSP00000411022.3:n.*18+57A>C
ENST00000361377.8:c.*18+57A>C	ENSP00000355160.4:n.*18+57A>C
ENST00000396954.7:c.98+57A>C	ENSP00000380157.3:n.98+57A>C
ENST00000450852.7:c.*18+57A>C	ENSP00000411022.3:n.*18+57A>C
ENST00000502402.5:n.1021+57A>C
ENST00000508922.5:c.*18+57A>C	ENSP00000426274.1:n.*18+57A>C
ENST00000510818.6:c.*18+57A>C	ENSP00000424267.2:n.*18+57A>C
ENST00000514553.2:n.283+57A>C
ENST00000527216.5:c.*18+57A>C	ENSP00000435326.1:n.*18+57A>C
ENST00000582677.5:c.*18+57A>C	ENSP00000462870.1:n.*18+57A>C
ENST00000584946.5:c.*18+57A>C	ENSP00000464663.1:n.*18+57A>C
NM_004531.4:c.98+57A>C	NP_004522.1:n.98+57A>C
NM_176806.3:c.*18+57A>C	NP_789776.1:n.*18+57A>C
NM_004531.5:c.98+57A>C MANE Select	NP_004522.1:n.98+57A>C
NM_176806.4:c.*18+57A>C MANE Plus Clinical	NP_789776.1:n.*18+57A>C