Canonical Allele Identifier: CA345198966
Gene: COG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.230825875G>C (hg19) chr1:g.230690129G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690129G>C , CM000663.2:g.230690129G>C GRCh38
NC_000001.10:g.230825875G>C , CM000663.1:g.230825875G>C GRCh37
NC_000001.9:g.228892498G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366669.9:c.1910G>C MANE Select ENSP00000355629.4:p.Gly637Ala
ENST00000366668.7:c.1907G>C ENSP00000355628.3:p.Gly636Ala
ENST00000366669.8:c.1910G>C ENSP00000355629.4:p.Gly637Ala
ENST00000468893.6:c.*1768G>C ENSP00000476305.1:n.*1768G>C
ENST00000478710.1:n.169G>C
ENST00000490900.1:n.689G>C
ENST00000534989.1:c.1733G>C ENSP00000440349.1:p.Gly578Ala
NM_001145036.1:c.1907G>C NP_001138508.1:p.Gly636Ala
NM_007357.2:c.1910G>C NP_031383.1:p.Gly637Ala
NM_007357.3:c.1910G>C MANE Select NP_031383.1:p.Gly637Ala
NM_001145036.2:c.1907G>C NP_001138508.1:p.Gly636Ala
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