Canonical Allele Identifier: CA812031483

Gene: MOCS2

Linked Data

• dbSNP Id: rs1386475271
• gnomAD v3: 5-53098529-G-A
• gnomAD v4: 5-53098529-G-A
• MyVariant Identifiers: chr5:g.52394359G>A (hg19) ; chr5:g.53098529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098529G>A , CM000667.2:g.53098529G>A	GRCh38
NC_000005.9:g.52394359G>A , CM000667.1:g.52394359G>A	GRCh37
NC_000005.8:g.52430116G>A	NCBI36
NG_008435.2:g.16240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*73C>T MANE Select	ENSP00000380157.3:n.*73C>T
ENST00000450852.8:c.*560C>T MANE Plus Clinical	ENSP00000411022.3:n.*560C>T
ENST00000361377.8:c.*409C>T	ENSP00000355160.4:n.*409C>T
ENST00000396954.7:c.*73C>T	ENSP00000380157.3:n.*73C>T
ENST00000450852.7:c.*560C>T	ENSP00000411022.3:n.*560C>T
ENST00000502402.5:n.2387C>T
ENST00000508922.5:c.*480C>T	ENSP00000426274.1:n.*480C>T
ENST00000510818.6:c.*513C>T	ENSP00000424267.2:n.*513C>T
ENST00000582677.5:c.*281C>T	ENSP00000462870.1:n.*281C>T
NM_004531.4:c.*73C>T	NP_004522.1:n.*73C>T
NM_176806.3:c.*560C>T	NP_789776.1:n.*560C>T
NM_004531.5:c.*73C>T MANE Select	NP_004522.1:n.*73C>T
NM_176806.4:c.*560C>T MANE Plus Clinical	NP_789776.1:n.*560C>T