Canonical Allele Identifier: CA2673822464

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098441-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098441A>C , CM000667.2:g.53098441A>C	GRCh38
NC_000005.9:g.52394271A>C , CM000667.1:g.52394271A>C	GRCh37
NC_000005.8:g.52430028A>C	NCBI36
NG_008435.2:g.16328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*161T>G MANE Select	ENSP00000380157.3:n.*161T>G
ENST00000450852.8:c.*648T>G MANE Plus Clinical	ENSP00000411022.3:n.*648T>G
ENST00000361377.8:c.*497T>G	ENSP00000355160.4:n.*497T>G
ENST00000396954.7:c.*161T>G	ENSP00000380157.3:n.*161T>G
ENST00000450852.7:c.*648T>G	ENSP00000411022.3:n.*648T>G
ENST00000502402.5:n.2475T>G
ENST00000508922.5:c.*568T>G	ENSP00000426274.1:n.*568T>G
ENST00000510818.6:c.*601T>G	ENSP00000424267.2:n.*601T>G
ENST00000582677.5:c.*369T>G	ENSP00000462870.1:n.*369T>G
NM_004531.4:c.*161T>G	NP_004522.1:n.*161T>G
NM_176806.3:c.*648T>G	NP_789776.1:n.*648T>G
NM_004531.5:c.*161T>G MANE Select	NP_004522.1:n.*161T>G
NM_176806.4:c.*648T>G MANE Plus Clinical	NP_789776.1:n.*648T>G