Canonical Allele Identifier: CA1447935

Gene: COG2 AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230691475G>A , CM000663.2:g.230691475G>A	GRCh38
NC_000001.10:g.230827221G>A , CM000663.1:g.230827221G>A	GRCh37
NC_000001.9:g.228893844G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007357.3:c.2026G>A (COG2) MANE Select	NP_031383.1:p.Ala676Thr
ENST00000366669.9:c.2026G>A (COG2) MANE Select	ENSP00000355629.4:p.Ala676Thr
NM_001145036.1:c.2023G>A (COG2)	NP_001138508.1:p.Ala675Thr
NM_001145036.2:c.2023G>A (COG2)	NP_001138508.1:p.Ala675Thr
NM_007357.2:c.2026G>A (COG2)	NP_031383.1:p.Ala676Thr
ENST00000366668.7:c.2023G>A (COG2)	ENSP00000355628.3:p.Ala675Thr
ENST00000366669.8:c.2026G>A (COG2)	ENSP00000355629.4:p.Ala676Thr
ENST00000468893.6:c.*1884G>A (COG2)	ENSP00000476305.1:n.*1884G>A
ENST00000478710.1:n.285G>A (COG2)
ENST00000534989.1:c.1849G>A (COG2)	ENSP00000440349.1:p.Ala617Thr
ENST00000680783.1:c.*2936C>T (AGT)	ENSP00000506329.1:n.*2936C>T