Canonical Allele Identifier: CA423879387

Gene: COG2

Linked Data

• dbSNP Id: rs1571966130
• MyVariant Identifiers: chr1:g.230825891C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690145C>T , CM000663.2:g.230690145C>T	GRCh38
NC_000001.10:g.230825891C>T , CM000663.1:g.230825891C>T	GRCh37
NC_000001.9:g.228892514C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1926C>T MANE Select	ENSP00000355629.4:p.Ser642=
ENST00000366668.7:c.1923C>T	ENSP00000355628.3:p.Ser641=
ENST00000366669.8:c.1926C>T	ENSP00000355629.4:p.Ser642=
ENST00000468893.6:c.*1784C>T	ENSP00000476305.1:n.*1784C>T
ENST00000478710.1:n.185C>T
ENST00000490900.1:n.705C>T
ENST00000534989.1:c.1749C>T	ENSP00000440349.1:p.Ser583=
NM_001145036.1:c.1923C>T	NP_001138508.1:p.Ser641=
NM_007357.2:c.1926C>T	NP_031383.1:p.Ser642=
NM_007357.3:c.1926C>T MANE Select	NP_031383.1:p.Ser642=
NM_001145036.2:c.1923C>T	NP_001138508.1:p.Ser641=