Canonical Allele Identifier: CA3263572

Gene: MOCS2

Linked Data

• dbSNP Id: rs375674581
• ExAC: 5:52394414 C / T
• gnomAD v2: 5-52394414-C-T
• gnomAD v3: 5-53098584-C-T
• gnomAD v4: 5-53098584-C-T
• MyVariant Identifiers: chr5:g.52394414C>T (hg19) ; chr5:g.53098584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098584C>T , CM000667.2:g.53098584C>T	GRCh38
NC_000005.9:g.52394414C>T , CM000667.1:g.52394414C>T	GRCh37
NC_000005.8:g.52430171C>T	NCBI36
NG_008435.2:g.16185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*18G>A MANE Select	ENSP00000380157.3:n.*18G>A
ENST00000450852.8:c.*505G>A MANE Plus Clinical	ENSP00000411022.3:n.*505G>A
ENST00000361377.8:c.*354G>A	ENSP00000355160.4:n.*354G>A
ENST00000396954.7:c.*18G>A	ENSP00000380157.3:n.*18G>A
ENST00000450852.7:c.*505G>A	ENSP00000411022.3:n.*505G>A
ENST00000502402.5:n.2332G>A
ENST00000508922.5:c.*425G>A	ENSP00000426274.1:n.*425G>A
ENST00000510818.6:c.*458G>A	ENSP00000424267.2:n.*458G>A
ENST00000582677.5:c.*226G>A	ENSP00000462870.1:n.*226G>A
ENST00000584946.5:c.*377G>A	ENSP00000464663.1:n.*377G>A
NM_004531.4:c.*18G>A	NP_004522.1:n.*18G>A
NM_176806.3:c.*505G>A	NP_789776.1:n.*505G>A
NM_004531.5:c.*18G>A MANE Select	NP_004522.1:n.*18G>A
NM_176806.4:c.*505G>A MANE Plus Clinical	NP_789776.1:n.*505G>A