Canonical Allele Identifier: CA345198767

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825814C>A (hg19) ; chr1:g.230690068C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690068C>A , CM000663.2:g.230690068C>A	GRCh38
NC_000001.10:g.230825814C>A , CM000663.1:g.230825814C>A	GRCh37
NC_000001.9:g.228892437C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1849C>A MANE Select	ENSP00000355629.4:p.Gln617Lys
ENST00000366668.7:c.1846C>A	ENSP00000355628.3:p.Gln616Lys
ENST00000366669.8:c.1849C>A	ENSP00000355629.4:p.Gln617Lys
ENST00000468893.6:c.*1707C>A	ENSP00000476305.1:n.*1707C>A
ENST00000478710.1:n.108C>A
ENST00000490900.1:n.628C>A
ENST00000534989.1:c.1672C>A	ENSP00000440349.1:p.Gln558Lys
NM_001145036.1:c.1846C>A	NP_001138508.1:p.Gln616Lys
NM_007357.2:c.1849C>A	NP_031383.1:p.Gln617Lys
NM_007357.3:c.1849C>A MANE Select	NP_031383.1:p.Gln617Lys
NM_001145036.2:c.1846C>A	NP_001138508.1:p.Gln616Lys