Canonical Allele Identifier: CA444164232

Gene: MOCS2

Linked Data

• dbSNP Id: rs768042301
• gnomAD v4: 5-53098614-T-C
• MyVariant Identifiers: chr5:g.52394444T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098614T>C , CM000667.2:g.53098614T>C	GRCh38
NC_000005.9:g.52394444T>C , CM000667.1:g.52394444T>C	GRCh37
NC_000005.8:g.52430201T>C	NCBI36
NG_008435.2:g.16155A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.555A>G MANE Select	ENSP00000380157.3:p.Ala185=
ENST00000450852.8:c.*475A>G MANE Plus Clinical	ENSP00000411022.3:n.*475A>G
ENST00000361377.8:c.*324A>G	ENSP00000355160.4:n.*324A>G
ENST00000396954.7:c.555A>G	ENSP00000380157.3:p.Ala185=
ENST00000450852.7:c.*475A>G	ENSP00000411022.3:n.*475A>G
ENST00000502402.5:n.2302A>G
ENST00000508922.5:c.*395A>G	ENSP00000426274.1:n.*395A>G
ENST00000510818.6:c.*428A>G	ENSP00000424267.2:n.*428A>G
ENST00000582677.5:c.*196A>G	ENSP00000462870.1:n.*196A>G
ENST00000584946.5:c.*347A>G	ENSP00000464663.1:n.*347A>G
NM_004531.4:c.555A>G	NP_004522.1:p.Ala185=
NM_176806.3:c.*475A>G	NP_789776.1:n.*475A>G
NM_004531.5:c.555A>G MANE Select	NP_004522.1:p.Ala185=
NM_176806.4:c.*475A>G MANE Plus Clinical	NP_789776.1:n.*475A>G