Canonical Allele Identifier: CA345198944
Gene: COG2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.230690119T>G
GRCh37 chr1:g.230825865T>G
Revel Score:
ENST00000366669 (MANE Select) 0.842
ENST00000535166 0.842
ENST00000366668 0.842
ENST00000534989 0.842
ENST00000546013 0.842
ClinVar RCV:
RCV000477726
ClinVar Variation:
417771
dbSNP:
1085307117
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690119T>G , CM000663.2:g.230690119T>G GRCh38
NC_000001.10:g.230825865T>G , CM000663.1:g.230825865T>G GRCh37
NC_000001.9:g.228892488T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1900T>G MANE Select ENSP00000355629.4:p.Trp634Gly
ENST00000366668.7:c.1897T>G ENSP00000355628.3:p.Trp633Gly
ENST00000366669.8:c.1900T>G ENSP00000355629.4:p.Trp634Gly
ENST00000468893.6:c.*1758T>G ENSP00000476305.1:n.*1758T>G
ENST00000478710.1:n.159T>G
ENST00000490900.1:n.679T>G
ENST00000534989.1:c.1723T>G ENSP00000440349.1:p.Trp575Gly
NM_001145036.1:c.1897T>G NP_001138508.1:p.Trp633Gly
NM_007357.2:c.1900T>G NP_031383.1:p.Trp634Gly
NM_007357.3:c.1900T>G MANE Select NP_031383.1:p.Trp634Gly
NM_001145036.2:c.1897T>G NP_001138508.1:p.Trp633Gly
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