Canonical Allele Identifier: CA2673822532
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098547-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098547A>G , CM000667.2:g.53098547A>G GRCh38
NC_000005.9:g.52394377A>G , CM000667.1:g.52394377A>G GRCh37
NC_000005.8:g.52430134A>G NCBI36
NG_008435.2:g.16222T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*55T>C MANE Select ENSP00000380157.3:n.*55T>C
ENST00000450852.8:c.*542T>C MANE Plus Clinical ENSP00000411022.3:n.*542T>C
ENST00000361377.8:c.*391T>C ENSP00000355160.4:n.*391T>C
ENST00000396954.7:c.*55T>C ENSP00000380157.3:n.*55T>C
ENST00000450852.7:c.*542T>C ENSP00000411022.3:n.*542T>C
ENST00000502402.5:n.2369T>C
ENST00000508922.5:c.*462T>C ENSP00000426274.1:n.*462T>C
ENST00000510818.6:c.*495T>C ENSP00000424267.2:n.*495T>C
ENST00000582677.5:c.*263T>C ENSP00000462870.1:n.*263T>C
ENST00000584946.5:c.*414T>C ENSP00000464663.1:n.*414T>C
NM_004531.4:c.*55T>C NP_004522.1:n.*55T>C
NM_176806.3:c.*542T>C NP_789776.1:n.*542T>C
NM_004531.5:c.*55T>C MANE Select NP_004522.1:n.*55T>C
NM_176806.4:c.*542T>C MANE Plus Clinical NP_789776.1:n.*542T>C
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