Canonical Allele Identifier: CA359693326

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52397927C>G (hg19) ; chr5:g.53102097C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53102097C>G , CM000667.2:g.53102097C>G	GRCh38
NC_000005.9:g.52397927C>G , CM000667.1:g.52397927C>G	GRCh37
NC_000005.8:g.52433684C>G	NCBI36
NG_008435.2:g.12672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.226G>C MANE Select	ENSP00000380157.3:p.Gly76Arg
ENST00000450852.8:c.*146G>C MANE Plus Clinical	ENSP00000411022.3:n.*146G>C
ENST00000361377.8:c.*146G>C	ENSP00000355160.4:n.*146G>C
ENST00000396954.7:c.226G>C	ENSP00000380157.3:p.Gly76Arg
ENST00000450852.7:c.*146G>C	ENSP00000411022.3:n.*146G>C
ENST00000502402.5:n.1149G>C
ENST00000508922.5:c.*146G>C	ENSP00000426274.1:n.*146G>C
ENST00000510818.6:c.*146G>C	ENSP00000424267.2:n.*146G>C
ENST00000514553.2:n.411G>C
ENST00000527216.5:c.*146G>C	ENSP00000435326.1:n.*146G>C
ENST00000582677.5:c.*19-1563G>C	ENSP00000462870.1:n.*19-1563G>C
ENST00000584946.5:c.*19-588G>C	ENSP00000464663.1:n.*19-588G>C
NM_004531.4:c.226G>C	NP_004522.1:p.Gly76Arg
NM_176806.3:c.*146G>C	NP_789776.1:n.*146G>C
NM_004531.5:c.226G>C MANE Select	NP_004522.1:p.Gly76Arg
NM_176806.4:c.*146G>C MANE Plus Clinical	NP_789776.1:n.*146G>C