Canonical Allele Identifier: CA345198953
Gene: COG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.230825869T>A (hg19) chr1:g.230690123T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690123T>A , CM000663.2:g.230690123T>A GRCh38
NC_000001.10:g.230825869T>A , CM000663.1:g.230825869T>A GRCh37
NC_000001.9:g.228892492T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366669.9:c.1904T>A MANE Select ENSP00000355629.4:p.Leu635Gln
ENST00000366668.7:c.1901T>A ENSP00000355628.3:p.Leu634Gln
ENST00000366669.8:c.1904T>A ENSP00000355629.4:p.Leu635Gln
ENST00000468893.6:c.*1762T>A ENSP00000476305.1:n.*1762T>A
ENST00000478710.1:n.163T>A
ENST00000490900.1:n.683T>A
ENST00000534989.1:c.1727T>A ENSP00000440349.1:p.Leu576Gln
NM_001145036.1:c.1901T>A NP_001138508.1:p.Leu634Gln
NM_007357.2:c.1904T>A NP_031383.1:p.Leu635Gln
NM_007357.3:c.1904T>A MANE Select NP_031383.1:p.Leu635Gln
NM_001145036.2:c.1901T>A NP_001138508.1:p.Leu634Gln
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