Canonical Allele Identifier: CA2673823483

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53106957-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53106957A>G , CM000667.2:g.53106957A>G	GRCh38
NC_000005.9:g.52402787A>G , CM000667.1:g.52402787A>G	GRCh37
NC_000005.8:g.52438544A>G	NCBI36
NG_008435.2:g.7812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.98+120T>C MANE Select	ENSP00000380157.3:n.98+120T>C
ENST00000450852.8:c.*18+120T>C MANE Plus Clinical	ENSP00000411022.3:n.*18+120T>C
ENST00000361377.8:c.*18+120T>C	ENSP00000355160.4:n.*18+120T>C
ENST00000396954.7:c.98+120T>C	ENSP00000380157.3:n.98+120T>C
ENST00000450852.7:c.*18+120T>C	ENSP00000411022.3:n.*18+120T>C
ENST00000502402.5:n.1021+120T>C
ENST00000508922.5:c.*18+120T>C	ENSP00000426274.1:n.*18+120T>C
ENST00000510818.6:c.*18+120T>C	ENSP00000424267.2:n.*18+120T>C
ENST00000514553.2:n.283+120T>C
ENST00000527216.5:c.*18+120T>C	ENSP00000435326.1:n.*18+120T>C
ENST00000582677.5:c.*18+120T>C	ENSP00000462870.1:n.*18+120T>C
ENST00000584946.5:c.*18+120T>C	ENSP00000464663.1:n.*18+120T>C
NM_004531.4:c.98+120T>C	NP_004522.1:n.98+120T>C
NM_176806.3:c.*18+120T>C	NP_789776.1:n.*18+120T>C
NM_004531.5:c.98+120T>C MANE Select	NP_004522.1:n.98+120T>C
NM_176806.4:c.*18+120T>C MANE Plus Clinical	NP_789776.1:n.*18+120T>C