Canonical Allele Identifier: CA349703803
Gene: PDE11A HGNC NCBI

Linked Data

dbSNP Id: rs1276060984
gnomAD v2: 2-178879081-T-C
gnomAD v3: 2-178014354-T-C
gnomAD v4: 2-178014354-T-C
MyVariant Identifiers: chr2:g.178879081T>C (hg19) chr2:g.178014354T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014354T>C , CM000664.2:g.178014354T>C GRCh38
NC_000002.11:g.178879081T>C , CM000664.1:g.178879081T>C GRCh37
NC_000002.10:g.178587327T>C NCBI36
NG_012168.1:g.98986A>G
NG_012168.2:g.98986A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286063.11:c.1019A>G MANE Select ENSP00000286063.5:p.Gln340Arg
ENST00000286063.10:c.1019A>G ENSP00000286063.5:p.Gln340Arg
ENST00000358450.8:c.269A>G ENSP00000351232.4:p.Gln90Arg
NM_001077197.1:c.269A>G NP_001070665.1:p.Gln90Arg
NM_016953.3:c.1019A>G NP_058649.3:p.Gln340Arg
NM_016953.4:c.1019A>G MANE Select NP_058649.3:p.Gln340Arg
NM_001077197.2:c.269A>G NP_001070665.1:p.Gln90Arg
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Search 100 bp 3'