Canonical Allele Identifier: CA2673822459

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098435-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098435C>T , CM000667.2:g.53098435C>T	GRCh38
NC_000005.9:g.52394265C>T , CM000667.1:g.52394265C>T	GRCh37
NC_000005.8:g.52430022C>T	NCBI36
NG_008435.2:g.16334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*167G>A MANE Select	ENSP00000380157.3:n.*167G>A
ENST00000450852.8:c.*654G>A MANE Plus Clinical	ENSP00000411022.3:n.*654G>A
ENST00000361377.8:c.*503G>A	ENSP00000355160.4:n.*503G>A
ENST00000396954.7:c.*167G>A	ENSP00000380157.3:n.*167G>A
ENST00000450852.7:c.*654G>A	ENSP00000411022.3:n.*654G>A
ENST00000502402.5:n.2481G>A
ENST00000508922.5:c.*574G>A	ENSP00000426274.1:n.*574G>A
ENST00000510818.6:c.*607G>A	ENSP00000424267.2:n.*607G>A
ENST00000582677.5:c.*375G>A	ENSP00000462870.1:n.*375G>A
NM_004531.4:c.*167G>A	NP_004522.1:n.*167G>A
NM_176806.3:c.*654G>A	NP_789776.1:n.*654G>A
NM_004531.5:c.*167G>A MANE Select	NP_004522.1:n.*167G>A
NM_176806.4:c.*654G>A MANE Plus Clinical	NP_789776.1:n.*654G>A