Canonical Allele Identifier: CA1981806

Gene: PDE11A

Linked Data

• ClinVar Variation Id: 225433
• ClinVar RCV Id: RCV000490291
• dbSNP Id: rs771254375
• ExAC: 2:178592878 G / C
• gnomAD v2: 2-178592878-G-C
• gnomAD v3: 2-177728150-G-C
• gnomAD v4: 2-177728150-G-C
• COSMIC: COSM2895000 ; COSM2895001
• MyVariant Identifiers: chr2:g.178592878G>C (hg19) ; chr2:g.177728150G>C (hg38)
• PubMed: PMID:16767104

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177728150G>C , CM000664.2:g.177728150G>C	GRCh38
NC_000002.11:g.178592878G>C , CM000664.1:g.178592878G>C	GRCh37
NC_000002.10:g.178301124G>C	NCBI36
NG_012168.1:g.385189C>G
NG_012168.2:g.385190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286063.11:c.1811C>G MANE Select	ENSP00000286063.5:p.Ser604Ter
ENST00000286063.10:c.1811C>G	ENSP00000286063.5:p.Ser604Ter
ENST00000358450.8:c.1061C>G	ENSP00000351232.4:p.Ser354Ter
ENST00000389683.7:c.479C>G	ENSP00000374333.3:p.Ser160Ter
ENST00000409504.5:c.737C>G	ENSP00000386539.1:p.Ser246Ter
ENST00000433879.1:c.634C>G
ENST00000497003.5:n.853C>G
NM_001077196.1:c.479C>G	NP_001070664.1:p.Ser160Ter
NM_001077197.1:c.1061C>G	NP_001070665.1:p.Ser354Ter
NM_001077358.1:c.737C>G	NP_001070826.1:p.Ser246Ter
NM_016953.3:c.1811C>G	NP_058649.3:p.Ser604Ter
NM_016953.4:c.1811C>G MANE Select	NP_058649.3:p.Ser604Ter
NM_001077196.2:c.479C>G	NP_001070664.1:p.Ser160Ter
NM_001077197.2:c.1061C>G	NP_001070665.1:p.Ser354Ter
NM_001077358.2:c.737C>G	NP_001070826.1:p.Ser246Ter