Canonical Allele Identifier: CA345198540

Gene: COG2

Linked Data

• gnomAD v4: 1-230690027-C-A
• MyVariant Identifiers: chr1:g.230825773C>A (hg19) ; chr1:g.230690027C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690027C>A , CM000663.2:g.230690027C>A	GRCh38
NC_000001.10:g.230825773C>A , CM000663.1:g.230825773C>A	GRCh37
NC_000001.9:g.228892396C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1808C>A MANE Select	ENSP00000355629.4:p.Thr603Lys
ENST00000366668.7:c.1805C>A	ENSP00000355628.3:p.Thr602Lys
ENST00000366669.8:c.1808C>A	ENSP00000355629.4:p.Thr603Lys
ENST00000468893.6:c.*1666C>A	ENSP00000476305.1:n.*1666C>A
ENST00000478710.1:n.67C>A
ENST00000490900.1:n.587C>A
ENST00000534989.1:c.1631C>A	ENSP00000440349.1:p.Thr544Lys
NM_001145036.1:c.1805C>A	NP_001138508.1:p.Thr602Lys
NM_007357.2:c.1808C>A	NP_031383.1:p.Thr603Lys
NM_007357.3:c.1808C>A MANE Select	NP_031383.1:p.Thr603Lys
NM_001145036.2:c.1805C>A	NP_001138508.1:p.Thr602Lys