Canonical Allele Identifier: CA3263575

Gene: MOCS2

Linked Data

• dbSNP Id: rs778249374
• ExAC: 5:52394424 A / G
• gnomAD v2: 5-52394424-A-G
• gnomAD v3: 5-53098594-A-G
• gnomAD v4: 5-53098594-A-G
• MyVariant Identifiers: chr5:g.52394424A>G (hg19) ; chr5:g.53098594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098594A>G , CM000667.2:g.53098594A>G	GRCh38
NC_000005.9:g.52394424A>G , CM000667.1:g.52394424A>G	GRCh37
NC_000005.8:g.52430181A>G	NCBI36
NG_008435.2:g.16175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*8T>C MANE Select	ENSP00000380157.3:n.*8T>C
ENST00000450852.8:c.*495T>C MANE Plus Clinical	ENSP00000411022.3:n.*495T>C
ENST00000361377.8:c.*344T>C	ENSP00000355160.4:n.*344T>C
ENST00000396954.7:c.*8T>C	ENSP00000380157.3:n.*8T>C
ENST00000450852.7:c.*495T>C	ENSP00000411022.3:n.*495T>C
ENST00000502402.5:n.2322T>C
ENST00000508922.5:c.*415T>C	ENSP00000426274.1:n.*415T>C
ENST00000510818.6:c.*448T>C	ENSP00000424267.2:n.*448T>C
ENST00000582677.5:c.*216T>C	ENSP00000462870.1:n.*216T>C
ENST00000584946.5:c.*367T>C	ENSP00000464663.1:n.*367T>C
NM_004531.4:c.*8T>C	NP_004522.1:n.*8T>C
NM_176806.3:c.*495T>C	NP_789776.1:n.*495T>C
NM_004531.5:c.*8T>C MANE Select	NP_004522.1:n.*8T>C
NM_176806.4:c.*495T>C MANE Plus Clinical	NP_789776.1:n.*495T>C