Canonical Allele Identifier: CA345198983

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825884G>C (hg19) ; chr1:g.230690138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690138G>C , CM000663.2:g.230690138G>C	GRCh38
NC_000001.10:g.230825884G>C , CM000663.1:g.230825884G>C	GRCh37
NC_000001.9:g.228892507G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1919G>C MANE Select	ENSP00000355629.4:p.Ser640Thr
ENST00000366668.7:c.1916G>C	ENSP00000355628.3:p.Ser639Thr
ENST00000366669.8:c.1919G>C	ENSP00000355629.4:p.Ser640Thr
ENST00000468893.6:c.*1777G>C	ENSP00000476305.1:n.*1777G>C
ENST00000478710.1:n.178G>C
ENST00000490900.1:n.698G>C
ENST00000534989.1:c.1742G>C	ENSP00000440349.1:p.Ser581Thr
NM_001145036.1:c.1916G>C	NP_001138508.1:p.Ser639Thr
NM_007357.2:c.1919G>C	NP_031383.1:p.Ser640Thr
NM_007357.3:c.1919G>C MANE Select	NP_031383.1:p.Ser640Thr
NM_001145036.2:c.1916G>C	NP_001138508.1:p.Ser639Thr