Canonical Allele Identifier: CA359693727

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52402954C>G (hg19) ; chr5:g.53107124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107124C>G , CM000667.2:g.53107124C>G	GRCh38
NC_000005.9:g.52402954C>G , CM000667.1:g.52402954C>G	GRCh37
NC_000005.8:g.52438711C>G	NCBI36
NG_008435.2:g.7645G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.51G>C MANE Select	ENSP00000380157.3:p.Leu17Phe
ENST00000450852.8:c.238G>C MANE Plus Clinical	ENSP00000411022.3:p.Ala80Pro
ENST00000361377.8:c.238G>C	ENSP00000355160.4:p.Ala80Pro
ENST00000396954.7:c.51G>C	ENSP00000380157.3:p.Leu17Phe
ENST00000450852.7:c.238G>C	ENSP00000411022.3:p.Ala80Pro
ENST00000502402.5:n.974G>C
ENST00000508922.5:c.238G>C	ENSP00000426274.1:p.Ala80Pro
ENST00000510818.6:c.238G>C	ENSP00000424267.2:p.Ala80Pro
ENST00000514553.2:n.236G>C
ENST00000527216.5:c.223G>C	ENSP00000435326.1:p.Ala75Pro
ENST00000582677.5:c.238G>C	ENSP00000462870.1:p.Ala80Pro
ENST00000584946.5:c.238G>C	ENSP00000464663.1:p.Ala80Pro
NM_004531.4:c.51G>C	NP_004522.1:p.Leu17Phe
NM_176806.3:c.238G>C	NP_789776.1:p.Ala80Pro
NM_004531.5:c.51G>C MANE Select	NP_004522.1:p.Leu17Phe
NM_176806.4:c.238G>C MANE Plus Clinical	NP_789776.1:p.Ala80Pro