Canonical Allele Identifier: CA2673822537

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098559-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098559A>C , CM000667.2:g.53098559A>C	GRCh38
NC_000005.9:g.52394389A>C , CM000667.1:g.52394389A>C	GRCh37
NC_000005.8:g.52430146A>C	NCBI36
NG_008435.2:g.16210T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*43T>G MANE Select	ENSP00000380157.3:n.*43T>G
ENST00000450852.8:c.*530T>G MANE Plus Clinical	ENSP00000411022.3:n.*530T>G
ENST00000361377.8:c.*379T>G	ENSP00000355160.4:n.*379T>G
ENST00000396954.7:c.*43T>G	ENSP00000380157.3:n.*43T>G
ENST00000450852.7:c.*530T>G	ENSP00000411022.3:n.*530T>G
ENST00000502402.5:n.2357T>G
ENST00000508922.5:c.*450T>G	ENSP00000426274.1:n.*450T>G
ENST00000510818.6:c.*483T>G	ENSP00000424267.2:n.*483T>G
ENST00000582677.5:c.*251T>G	ENSP00000462870.1:n.*251T>G
ENST00000584946.5:c.*402T>G	ENSP00000464663.1:n.*402T>G
NM_004531.4:c.*43T>G	NP_004522.1:n.*43T>G
NM_176806.3:c.*530T>G	NP_789776.1:n.*530T>G
NM_004531.5:c.*43T>G MANE Select	NP_004522.1:n.*43T>G
NM_176806.4:c.*530T>G MANE Plus Clinical	NP_789776.1:n.*530T>G