Canonical Allele Identifier: CA1447309

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230659609A>G , CM000663.2:g.230659609A>G	GRCh38
NC_000001.10:g.230795355A>G , CM000663.1:g.230795355A>G	GRCh37
NC_000001.9:g.228861978A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007357.3:c.218A>G MANE Select	NP_031383.1:p.Asn73Ser
ENST00000366669.9:c.218A>G MANE Select	ENSP00000355629.4:p.Asn73Ser
NM_001145036.1:c.218A>G	NP_001138508.1:p.Asn73Ser
NM_001145036.2:c.218A>G	NP_001138508.1:p.Asn73Ser
NM_007357.2:c.218A>G	NP_031383.1:p.Asn73Ser
ENST00000366668.7:c.218A>G	ENSP00000355628.3:p.Asn73Ser
ENST00000366669.8:c.218A>G	ENSP00000355629.4:p.Asn73Ser
ENST00000468893.6:c.218A>G	ENSP00000476305.1:p.Asn73Ser
ENST00000473671.1:n.304A>G
ENST00000494371.5:n.336A>G
ENST00000534989.1:c.41A>G	ENSP00000440349.1:p.Asn14Ser