Canonical Allele Identifier: CA359692548

Gene: MOCS2

Linked Data

• dbSNP Id: rs1189542324
• gnomAD v2: 5-52394438-G-C
• MyVariant Identifiers: chr5:g.52394438G>C (hg19) ; chr5:g.53098608G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098608G>C , CM000667.2:g.53098608G>C	GRCh38
NC_000005.9:g.52394438G>C , CM000667.1:g.52394438G>C	GRCh37
NC_000005.8:g.52430195G>C	NCBI36
NG_008435.2:g.16161C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.561C>G MANE Select	ENSP00000380157.3:p.Asn187Lys
ENST00000450852.8:c.*481C>G MANE Plus Clinical	ENSP00000411022.3:n.*481C>G
ENST00000361377.8:c.*330C>G	ENSP00000355160.4:n.*330C>G
ENST00000396954.7:c.561C>G	ENSP00000380157.3:p.Asn187Lys
ENST00000450852.7:c.*481C>G	ENSP00000411022.3:n.*481C>G
ENST00000502402.5:n.2308C>G
ENST00000508922.5:c.*401C>G	ENSP00000426274.1:n.*401C>G
ENST00000510818.6:c.*434C>G	ENSP00000424267.2:n.*434C>G
ENST00000582677.5:c.*202C>G	ENSP00000462870.1:n.*202C>G
ENST00000584946.5:c.*353C>G	ENSP00000464663.1:n.*353C>G
NM_004531.4:c.561C>G	NP_004522.1:p.Asn187Lys
NM_176806.3:c.*481C>G	NP_789776.1:n.*481C>G
NM_004531.5:c.561C>G MANE Select	NP_004522.1:p.Asn187Lys
NM_176806.4:c.*481C>G MANE Plus Clinical	NP_789776.1:n.*481C>G