Canonical Allele Identifier: CA1546395343

Gene: MOCS2

Linked Data

• dbSNP Id: rs374748835
• gnomAD v4: 5-53098570-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098570G>A , CM000667.2:g.53098570G>A	GRCh38
NC_000005.9:g.52394400G>A , CM000667.1:g.52394400G>A	GRCh37
NC_000005.8:g.52430157G>A	NCBI36
NG_008435.2:g.16199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*32C>T MANE Select	ENSP00000380157.3:n.*32C>T
ENST00000450852.8:c.*519C>T MANE Plus Clinical	ENSP00000411022.3:n.*519C>T
ENST00000361377.8:c.*368C>T	ENSP00000355160.4:n.*368C>T
ENST00000396954.7:c.*32C>T	ENSP00000380157.3:n.*32C>T
ENST00000450852.7:c.*519C>T	ENSP00000411022.3:n.*519C>T
ENST00000502402.5:n.2346C>T
ENST00000508922.5:c.*439C>T	ENSP00000426274.1:n.*439C>T
ENST00000510818.6:c.*472C>T	ENSP00000424267.2:n.*472C>T
ENST00000582677.5:c.*240C>T	ENSP00000462870.1:n.*240C>T
ENST00000584946.5:c.*391C>T	ENSP00000464663.1:n.*391C>T
NM_004531.4:c.*32C>T	NP_004522.1:n.*32C>T
NM_176806.3:c.*519C>T	NP_789776.1:n.*519C>T
NM_004531.5:c.*32C>T MANE Select	NP_004522.1:n.*32C>T
NM_176806.4:c.*519C>T MANE Plus Clinical	NP_789776.1:n.*519C>T