Canonical Allele Identifier: CA345198951

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825868C>A (hg19) ; chr1:g.230690122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690122C>A , CM000663.2:g.230690122C>A	GRCh38
NC_000001.10:g.230825868C>A , CM000663.1:g.230825868C>A	GRCh37
NC_000001.9:g.228892491C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1903C>A MANE Select	ENSP00000355629.4:p.Leu635Ile
ENST00000366668.7:c.1900C>A	ENSP00000355628.3:p.Leu634Ile
ENST00000366669.8:c.1903C>A	ENSP00000355629.4:p.Leu635Ile
ENST00000468893.6:c.*1761C>A	ENSP00000476305.1:n.*1761C>A
ENST00000478710.1:n.162C>A
ENST00000490900.1:n.682C>A
ENST00000534989.1:c.1726C>A	ENSP00000440349.1:p.Leu576Ile
NM_001145036.1:c.1900C>A	NP_001138508.1:p.Leu634Ile
NM_007357.2:c.1903C>A	NP_031383.1:p.Leu635Ile
NM_007357.3:c.1903C>A MANE Select	NP_031383.1:p.Leu635Ile
NM_001145036.2:c.1900C>A	NP_001138508.1:p.Leu634Ile