Canonical Allele Identifier: CA1447675
Gene: COG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2988344
ClinVar RCV Id: RCV003844527
dbSNP Id: rs765350060
ExAC: 1:230814817 G / A
gnomAD v2: 1-230814817-G-A
gnomAD v3: 1-230679071-G-A
gnomAD v4: 1-230679071-G-A
COSMIC: COSN7986795
MyVariant Identifiers: chr1:g.230814817G>A (hg19) chr1:g.230814817_230814819delinsACC (hg19) chr1:g.230679071G>A (hg38) chr1:g.230679071_230679073delinsACC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230679071G>A , CM000663.2:g.230679071G>A GRCh38
NC_000001.10:g.230814817G>A , CM000663.1:g.230814817G>A GRCh37
NC_000001.9:g.228881440G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1166+19G>A MANE Select ENSP00000355629.4:n.1166+19G>A
ENST00000366668.7:c.1166+19G>A ENSP00000355628.3:n.1166+19G>A
ENST00000366669.8:c.1166+19G>A ENSP00000355629.4:n.1166+19G>A
ENST00000468893.6:c.*1024+19G>A ENSP00000476305.1:n.*1024+19G>A
ENST00000494371.5:n.3479G>A
ENST00000534989.1:c.989+19G>A ENSP00000440349.1:n.989+19G>A
NM_001145036.1:c.1166+19G>A NP_001138508.1:n.1166+19G>A
NM_007357.2:c.1166+19G>A NP_031383.1:n.1166+19G>A
NM_007357.3:c.1166+19G>A MANE Select NP_031383.1:n.1166+19G>A
NM_001145036.2:c.1166+19G>A NP_001138508.1:n.1166+19G>A
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