Canonical Allele Identifier: CA1226658536
Gene: COG2 HGNC NCBI

Linked Data

dbSNP Id: rs1662997432
gnomAD v4: 1-230690384-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690384T>C , CM000663.2:g.230690384T>C GRCh38
NC_000001.10:g.230826130T>C , CM000663.1:g.230826130T>C GRCh37
NC_000001.9:g.228892753T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1934+231T>C MANE Select ENSP00000355629.4:n.1934+231T>C
ENST00000366668.7:c.1931+231T>C ENSP00000355628.3:n.1931+231T>C
ENST00000366669.8:c.1934+231T>C ENSP00000355629.4:n.1934+231T>C
ENST00000468893.6:c.*1792+231T>C ENSP00000476305.1:n.*1792+231T>C
ENST00000478710.1:n.193+231T>C
ENST00000534989.1:c.1757+231T>C ENSP00000440349.1:n.1757+231T>C
NM_001145036.1:c.1931+231T>C NP_001138508.1:n.1931+231T>C
NM_007357.2:c.1934+231T>C NP_031383.1:n.1934+231T>C
NM_007357.3:c.1934+231T>C MANE Select NP_031383.1:n.1934+231T>C
NM_001145036.2:c.1931+231T>C NP_001138508.1:n.1931+231T>C
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