Canonical Allele Identifier: CA345198923

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825857T>C (hg19) ; chr1:g.230690111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690111T>C , CM000663.2:g.230690111T>C	GRCh38
NC_000001.10:g.230825857T>C , CM000663.1:g.230825857T>C	GRCh37
NC_000001.9:g.228892480T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1892T>C MANE Select	ENSP00000355629.4:p.Ile631Thr
ENST00000366668.7:c.1889T>C	ENSP00000355628.3:p.Ile630Thr
ENST00000366669.8:c.1892T>C	ENSP00000355629.4:p.Ile631Thr
ENST00000468893.6:c.*1750T>C	ENSP00000476305.1:n.*1750T>C
ENST00000478710.1:n.151T>C
ENST00000490900.1:n.671T>C
ENST00000534989.1:c.1715T>C	ENSP00000440349.1:p.Ile572Thr
NM_001145036.1:c.1889T>C	NP_001138508.1:p.Ile630Thr
NM_007357.2:c.1892T>C	NP_031383.1:p.Ile631Thr
NM_007357.3:c.1892T>C MANE Select	NP_031383.1:p.Ile631Thr
NM_001145036.2:c.1889T>C	NP_001138508.1:p.Ile630Thr