Canonical Allele Identifier: CA118889895

Gene: MOCS2

Linked Data

• dbSNP Id: rs1038118003
• gnomAD v3: 5-53102018-G-A
• gnomAD v4: 5-53102018-G-A
• MyVariant Identifiers: chr5:g.52397848G>A (hg19) ; chr5:g.53102018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53102018G>A , CM000667.2:g.53102018G>A	GRCh38
NC_000005.9:g.52397848G>A , CM000667.1:g.52397848G>A	GRCh37
NC_000005.8:g.52433605G>A	NCBI36
NG_008435.2:g.12751C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.226+79C>T MANE Select	ENSP00000380157.3:n.226+79C>T
ENST00000450852.8:c.*146+79C>T MANE Plus Clinical	ENSP00000411022.3:n.*146+79C>T
ENST00000361377.8:c.*146+79C>T	ENSP00000355160.4:n.*146+79C>T
ENST00000396954.7:c.226+79C>T	ENSP00000380157.3:n.226+79C>T
ENST00000450852.7:c.*146+79C>T	ENSP00000411022.3:n.*146+79C>T
ENST00000502402.5:n.1149+79C>T
ENST00000508922.5:c.*146+79C>T	ENSP00000426274.1:n.*146+79C>T
ENST00000510818.6:c.*146+79C>T	ENSP00000424267.2:n.*146+79C>T
ENST00000514553.2:n.411+79C>T
ENST00000527216.5:c.*146+79C>T	ENSP00000435326.1:n.*146+79C>T
ENST00000582677.5:c.*19-1484C>T	ENSP00000462870.1:n.*19-1484C>T
ENST00000584946.5:c.*19-509C>T	ENSP00000464663.1:n.*19-509C>T
NM_004531.4:c.226+79C>T	NP_004522.1:n.226+79C>T
NM_176806.3:c.*146+79C>T	NP_789776.1:n.*146+79C>T
NM_004531.5:c.226+79C>T MANE Select	NP_004522.1:n.226+79C>T
NM_176806.4:c.*146+79C>T MANE Plus Clinical	NP_789776.1:n.*146+79C>T