Canonical Allele Identifier: CA650100992
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098544G>T , CM000667.2:g.53098544G>T GRCh38
NC_000005.9:g.52394374G>T , CM000667.1:g.52394374G>T GRCh37
NC_000005.8:g.52430131G>T NCBI36
NG_008435.2:g.16225C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*58C>A MANE Select ENSP00000380157.3:n.*58C>A
ENST00000450852.8:c.*545C>A MANE Plus Clinical ENSP00000411022.3:n.*545C>A
ENST00000361377.8:c.*394C>A ENSP00000355160.4:n.*394C>A
ENST00000396954.7:c.*58C>A ENSP00000380157.3:n.*58C>A
ENST00000450852.7:c.*545C>A ENSP00000411022.3:n.*545C>A
ENST00000502402.5:n.2372C>A
ENST00000508922.5:c.*465C>A ENSP00000426274.1:n.*465C>A
ENST00000510818.6:c.*498C>A ENSP00000424267.2:n.*498C>A
ENST00000582677.5:c.*266C>A ENSP00000462870.1:n.*266C>A
ENST00000584946.5:c.*417C>A ENSP00000464663.1:n.*417C>A
NM_004531.4:c.*58C>A NP_004522.1:n.*58C>A
NM_176806.3:c.*545C>A NP_789776.1:n.*545C>A
NM_004531.5:c.*58C>A MANE Select NP_004522.1:n.*58C>A
NM_176806.4:c.*545C>A MANE Plus Clinical NP_789776.1:n.*545C>A