Canonical Allele Identifier: CA1447898

Gene: COG2

Linked Data

• dbSNP Id: rs753308767
• ExAC: 1:230825878 C / A
• MyVariant Identifiers: chr1:g.230825878C>A (hg19) ; chr1:g.230690132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690132C>A , CM000663.2:g.230690132C>A	GRCh38
NC_000001.10:g.230825878C>A , CM000663.1:g.230825878C>A	GRCh37
NC_000001.9:g.228892501C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1913C>A MANE Select	ENSP00000355629.4:p.Thr638Asn
ENST00000366668.7:c.1910C>A	ENSP00000355628.3:p.Thr637Asn
ENST00000366669.8:c.1913C>A	ENSP00000355629.4:p.Thr638Asn
ENST00000468893.6:c.*1771C>A	ENSP00000476305.1:n.*1771C>A
ENST00000478710.1:n.172C>A
ENST00000490900.1:n.692C>A
ENST00000534989.1:c.1736C>A	ENSP00000440349.1:p.Thr579Asn
NM_001145036.1:c.1910C>A	NP_001138508.1:p.Thr637Asn
NM_007357.2:c.1913C>A	NP_031383.1:p.Thr638Asn
NM_007357.3:c.1913C>A MANE Select	NP_031383.1:p.Thr638Asn
NM_001145036.2:c.1910C>A	NP_001138508.1:p.Thr637Asn