Canonical Allele Identifier: CA3263780

Gene: MOCS2

Linked Data

• dbSNP Id: rs761530438
• ExAC: 5:52403032 G / C
• gnomAD v2: 5-52403032-G-C
• gnomAD v4: 5-53107202-G-C
• MyVariant Identifiers: chr5:g.52403032G>C (hg19) ; chr5:g.53107202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107202G>C , CM000667.2:g.53107202G>C	GRCh38
NC_000005.9:g.52403032G>C , CM000667.1:g.52403032G>C	GRCh37
NC_000005.8:g.52438789G>C	NCBI36
NG_008435.2:g.7567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.-28C>G MANE Select	ENSP00000380157.3:n.-28C>G
ENST00000450852.8:c.160C>G MANE Plus Clinical	ENSP00000411022.3:p.Gln54Glu
ENST00000361377.8:c.160C>G	ENSP00000355160.4:p.Gln54Glu
ENST00000396954.7:c.-28C>G	ENSP00000380157.3:n.-28C>G
ENST00000450852.7:c.160C>G	ENSP00000411022.3:p.Gln54Glu
ENST00000502402.5:n.896C>G
ENST00000508922.5:c.160C>G	ENSP00000426274.1:p.Gln54Glu
ENST00000510818.6:c.160C>G	ENSP00000424267.2:p.Gln54Glu
ENST00000514553.2:n.158C>G
ENST00000527216.5:c.145C>G	ENSP00000435326.1:p.Gln49Glu
ENST00000582677.5:c.160C>G	ENSP00000462870.1:p.Gln54Glu
ENST00000584946.5:c.160C>G	ENSP00000464663.1:p.Gln54Glu
NM_004531.4:c.-28C>G	NP_004522.1:n.-28C>G
NM_176806.3:c.160C>G	NP_789776.1:p.Gln54Glu
NM_004531.5:c.-28C>G MANE Select	NP_004522.1:n.-28C>G
NM_176806.4:c.160C>G MANE Plus Clinical	NP_789776.1:p.Gln54Glu