Canonical Allele Identifier: CA345198778

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825815A>T (hg19) ; chr1:g.230690069A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690069A>T , CM000663.2:g.230690069A>T	GRCh38
NC_000001.10:g.230825815A>T , CM000663.1:g.230825815A>T	GRCh37
NC_000001.9:g.228892438A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1850A>T MANE Select	ENSP00000355629.4:p.Gln617Leu
ENST00000366668.7:c.1847A>T	ENSP00000355628.3:p.Gln616Leu
ENST00000366669.8:c.1850A>T	ENSP00000355629.4:p.Gln617Leu
ENST00000468893.6:c.*1708A>T	ENSP00000476305.1:n.*1708A>T
ENST00000478710.1:n.109A>T
ENST00000490900.1:n.629A>T
ENST00000534989.1:c.1673A>T	ENSP00000440349.1:p.Gln558Leu
NM_001145036.1:c.1847A>T	NP_001138508.1:p.Gln616Leu
NM_007357.2:c.1850A>T	NP_031383.1:p.Gln617Leu
NM_007357.3:c.1850A>T MANE Select	NP_031383.1:p.Gln617Leu
NM_001145036.2:c.1847A>T	NP_001138508.1:p.Gln616Leu