Canonical Allele Identifier: CA118883927

Gene: MOCS2

Linked Data

• dbSNP Id: rs564717242
• gnomAD v2: 5-52394285-C-G
• gnomAD v3: 5-53098455-C-G
• gnomAD v4: 5-53098455-C-G
• MyVariant Identifiers: chr5:g.52394285C>G (hg19) ; chr5:g.53098455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098455C>G , CM000667.2:g.53098455C>G	GRCh38
NC_000005.9:g.52394285C>G , CM000667.1:g.52394285C>G	GRCh37
NC_000005.8:g.52430042C>G	NCBI36
NG_008435.2:g.16314G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*147G>C MANE Select	ENSP00000380157.3:n.*147G>C
ENST00000450852.8:c.*634G>C MANE Plus Clinical	ENSP00000411022.3:n.*634G>C
ENST00000361377.8:c.*483G>C	ENSP00000355160.4:n.*483G>C
ENST00000396954.7:c.*147G>C	ENSP00000380157.3:n.*147G>C
ENST00000450852.7:c.*634G>C	ENSP00000411022.3:n.*634G>C
ENST00000502402.5:n.2461G>C
ENST00000508922.5:c.*554G>C	ENSP00000426274.1:n.*554G>C
ENST00000510818.6:c.*587G>C	ENSP00000424267.2:n.*587G>C
ENST00000582677.5:c.*355G>C	ENSP00000462870.1:n.*355G>C
NM_004531.4:c.*147G>C	NP_004522.1:n.*147G>C
NM_176806.3:c.*634G>C	NP_789776.1:n.*634G>C
NM_004531.5:c.*147G>C MANE Select	NP_004522.1:n.*147G>C
NM_176806.4:c.*634G>C MANE Plus Clinical	NP_789776.1:n.*634G>C