Canonical Allele Identifier: CA423878488

Gene: COG2

Linked Data

• ClinVar Variation Id: 2862222
• ClinVar RCV Id: RCV003757832
• MyVariant Identifiers: chr1:g.230825765C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690019C>G , CM000663.2:g.230690019C>G	GRCh38
NC_000001.10:g.230825765C>G , CM000663.1:g.230825765C>G	GRCh37
NC_000001.9:g.228892388C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1800C>G MANE Select	ENSP00000355629.4:p.Val600=
ENST00000366668.7:c.1797C>G	ENSP00000355628.3:p.Val599=
ENST00000366669.8:c.1800C>G	ENSP00000355629.4:p.Val600=
ENST00000468893.6:c.*1658C>G	ENSP00000476305.1:n.*1658C>G
ENST00000478710.1:n.59C>G
ENST00000490900.1:n.579C>G
ENST00000534989.1:c.1623C>G	ENSP00000440349.1:p.Val541=
NM_001145036.1:c.1797C>G	NP_001138508.1:p.Val599=
NM_007357.2:c.1800C>G	NP_031383.1:p.Val600=
NM_007357.3:c.1800C>G MANE Select	NP_031383.1:p.Val600=
NM_001145036.2:c.1797C>G	NP_001138508.1:p.Val599=