Canonical Allele Identifier: CA529689913

Gene: COG2

Linked Data

• dbSNP Id: rs1433543720
• gnomAD v2: 1-230825944-T-C
• gnomAD v4: 1-230690198-T-C
• MyVariant Identifiers: chr1:g.230825944T>C (hg19) ; chr1:g.230690198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690198T>C , CM000663.2:g.230690198T>C	GRCh38
NC_000001.10:g.230825944T>C , CM000663.1:g.230825944T>C	GRCh37
NC_000001.9:g.228892567T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+45T>C MANE Select	ENSP00000355629.4:n.1934+45T>C
ENST00000366668.7:c.1931+45T>C	ENSP00000355628.3:n.1931+45T>C
ENST00000366669.8:c.1934+45T>C	ENSP00000355629.4:n.1934+45T>C
ENST00000468893.6:c.*1792+45T>C	ENSP00000476305.1:n.*1792+45T>C
ENST00000478710.1:n.193+45T>C
ENST00000490900.1:n.758T>C
ENST00000534989.1:c.1757+45T>C	ENSP00000440349.1:n.1757+45T>C
NM_001145036.1:c.1931+45T>C	NP_001138508.1:n.1931+45T>C
NM_007357.2:c.1934+45T>C	NP_031383.1:n.1934+45T>C
NM_007357.3:c.1934+45T>C MANE Select	NP_031383.1:n.1934+45T>C
NM_001145036.2:c.1931+45T>C	NP_001138508.1:n.1931+45T>C