Canonical Allele Identifier: CA3263571

Gene: MOCS2

Linked Data

• dbSNP Id: rs371976854
• ExAC: 5:52394412 T / C
• gnomAD v2: 5-52394412-T-C
• MyVariant Identifiers: chr5:g.52394412T>C (hg19) ; chr5:g.53098582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098582T>C , CM000667.2:g.53098582T>C	GRCh38
NC_000005.9:g.52394412T>C , CM000667.1:g.52394412T>C	GRCh37
NC_000005.8:g.52430169T>C	NCBI36
NG_008435.2:g.16187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*20A>G MANE Select	ENSP00000380157.3:n.*20A>G
ENST00000450852.8:c.*507A>G MANE Plus Clinical	ENSP00000411022.3:n.*507A>G
ENST00000361377.8:c.*356A>G	ENSP00000355160.4:n.*356A>G
ENST00000396954.7:c.*20A>G	ENSP00000380157.3:n.*20A>G
ENST00000450852.7:c.*507A>G	ENSP00000411022.3:n.*507A>G
ENST00000502402.5:n.2334A>G
ENST00000508922.5:c.*427A>G	ENSP00000426274.1:n.*427A>G
ENST00000510818.6:c.*460A>G	ENSP00000424267.2:n.*460A>G
ENST00000582677.5:c.*228A>G	ENSP00000462870.1:n.*228A>G
ENST00000584946.5:c.*379A>G	ENSP00000464663.1:n.*379A>G
NM_004531.4:c.*20A>G	NP_004522.1:n.*20A>G
NM_176806.3:c.*507A>G	NP_789776.1:n.*507A>G
NM_004531.5:c.*20A>G MANE Select	NP_004522.1:n.*20A>G
NM_176806.4:c.*507A>G MANE Plus Clinical	NP_789776.1:n.*507A>G