Canonical Allele Identifier: CA2673822515

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098514-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098514A>G , CM000667.2:g.53098514A>G	GRCh38
NC_000005.9:g.52394344A>G , CM000667.1:g.52394344A>G	GRCh37
NC_000005.8:g.52430101A>G	NCBI36
NG_008435.2:g.16255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*88T>C MANE Select	ENSP00000380157.3:n.*88T>C
ENST00000450852.8:c.*575T>C MANE Plus Clinical	ENSP00000411022.3:n.*575T>C
ENST00000361377.8:c.*424T>C	ENSP00000355160.4:n.*424T>C
ENST00000396954.7:c.*88T>C	ENSP00000380157.3:n.*88T>C
ENST00000450852.7:c.*575T>C	ENSP00000411022.3:n.*575T>C
ENST00000502402.5:n.2402T>C
ENST00000508922.5:c.*495T>C	ENSP00000426274.1:n.*495T>C
ENST00000510818.6:c.*528T>C	ENSP00000424267.2:n.*528T>C
ENST00000582677.5:c.*296T>C	ENSP00000462870.1:n.*296T>C
NM_004531.4:c.*88T>C	NP_004522.1:n.*88T>C
NM_176806.3:c.*575T>C	NP_789776.1:n.*575T>C
NM_004531.5:c.*88T>C MANE Select	NP_004522.1:n.*88T>C
NM_176806.4:c.*575T>C MANE Plus Clinical	NP_789776.1:n.*575T>C