Canonical Allele Identifier: CA345198994

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825889A>T (hg19) ; chr1:g.230690143A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690143A>T , CM000663.2:g.230690143A>T	GRCh38
NC_000001.10:g.230825889A>T , CM000663.1:g.230825889A>T	GRCh37
NC_000001.9:g.228892512A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1924A>T MANE Select	ENSP00000355629.4:p.Ser642Cys
ENST00000366668.7:c.1921A>T	ENSP00000355628.3:p.Ser641Cys
ENST00000366669.8:c.1924A>T	ENSP00000355629.4:p.Ser642Cys
ENST00000468893.6:c.*1782A>T	ENSP00000476305.1:n.*1782A>T
ENST00000478710.1:n.183A>T
ENST00000490900.1:n.703A>T
ENST00000534989.1:c.1747A>T	ENSP00000440349.1:p.Ser583Cys
NM_001145036.1:c.1921A>T	NP_001138508.1:p.Ser641Cys
NM_007357.2:c.1924A>T	NP_031383.1:p.Ser642Cys
NM_007357.3:c.1924A>T MANE Select	NP_031383.1:p.Ser642Cys
NM_001145036.2:c.1921A>T	NP_001138508.1:p.Ser641Cys