Canonical Allele Identifier: CA118883894

Gene: MOCS2

Linked Data

• dbSNP Id: rs191465075
• gnomAD v3: 5-53098431-C-A
• gnomAD v4: 5-53098431-C-A
• MyVariant Identifiers: chr5:g.52394261C>A (hg19) ; chr5:g.53098431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098431C>A , CM000667.2:g.53098431C>A	GRCh38
NC_000005.9:g.52394261C>A , CM000667.1:g.52394261C>A	GRCh37
NC_000005.8:g.52430018C>A	NCBI36
NG_008435.2:g.16338G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*171G>T MANE Select	ENSP00000380157.3:n.*171G>T
ENST00000450852.8:c.*658G>T MANE Plus Clinical	ENSP00000411022.3:n.*658G>T
ENST00000361377.8:c.*507G>T	ENSP00000355160.4:n.*507G>T
ENST00000396954.7:c.*171G>T	ENSP00000380157.3:n.*171G>T
ENST00000450852.7:c.*658G>T	ENSP00000411022.3:n.*658G>T
ENST00000502402.5:n.2485G>T
ENST00000508922.5:c.*578G>T	ENSP00000426274.1:n.*578G>T
ENST00000510818.6:c.*611G>T	ENSP00000424267.2:n.*611G>T
ENST00000582677.5:c.*379G>T	ENSP00000462870.1:n.*379G>T
NM_004531.4:c.*171G>T	NP_004522.1:n.*171G>T
NM_176806.3:c.*658G>T	NP_789776.1:n.*658G>T
NM_004531.5:c.*171G>T MANE Select	NP_004522.1:n.*171G>T
NM_176806.4:c.*658G>T MANE Plus Clinical	NP_789776.1:n.*658G>T