Canonical Allele Identifier: CA2650968724

Gene: COG2

Linked Data

• gnomAD v4: 1-230690235-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690235T>C , CM000663.2:g.230690235T>C	GRCh38
NC_000001.10:g.230825981T>C , CM000663.1:g.230825981T>C	GRCh37
NC_000001.9:g.228892604T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+82T>C MANE Select	ENSP00000355629.4:n.1934+82T>C
ENST00000366668.7:c.1931+82T>C	ENSP00000355628.3:n.1931+82T>C
ENST00000366669.8:c.1934+82T>C	ENSP00000355629.4:n.1934+82T>C
ENST00000468893.6:c.*1792+82T>C	ENSP00000476305.1:n.*1792+82T>C
ENST00000478710.1:n.193+82T>C
ENST00000490900.1:n.795T>C
ENST00000534989.1:c.1757+82T>C	ENSP00000440349.1:n.1757+82T>C
NM_001145036.1:c.1931+82T>C	NP_001138508.1:n.1931+82T>C
NM_007357.2:c.1934+82T>C	NP_031383.1:n.1934+82T>C
NM_007357.3:c.1934+82T>C MANE Select	NP_031383.1:n.1934+82T>C
NM_001145036.2:c.1931+82T>C	NP_001138508.1:n.1931+82T>C