Canonical Allele Identifier: CA2673822507

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098495-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098495G>C , CM000667.2:g.53098495G>C	GRCh38
NC_000005.9:g.52394325G>C , CM000667.1:g.52394325G>C	GRCh37
NC_000005.8:g.52430082G>C	NCBI36
NG_008435.2:g.16274C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*107C>G MANE Select	ENSP00000380157.3:n.*107C>G
ENST00000450852.8:c.*594C>G MANE Plus Clinical	ENSP00000411022.3:n.*594C>G
ENST00000361377.8:c.*443C>G	ENSP00000355160.4:n.*443C>G
ENST00000396954.7:c.*107C>G	ENSP00000380157.3:n.*107C>G
ENST00000450852.7:c.*594C>G	ENSP00000411022.3:n.*594C>G
ENST00000502402.5:n.2421C>G
ENST00000508922.5:c.*514C>G	ENSP00000426274.1:n.*514C>G
ENST00000510818.6:c.*547C>G	ENSP00000424267.2:n.*547C>G
ENST00000582677.5:c.*315C>G	ENSP00000462870.1:n.*315C>G
NM_004531.4:c.*107C>G	NP_004522.1:n.*107C>G
NM_176806.3:c.*594C>G	NP_789776.1:n.*594C>G
NM_004531.5:c.*107C>G MANE Select	NP_004522.1:n.*107C>G
NM_176806.4:c.*594C>G MANE Plus Clinical	NP_789776.1:n.*594C>G