Canonical Allele Identifier: CA345198954

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825869T>C (hg19) ; chr1:g.230690123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690123T>C , CM000663.2:g.230690123T>C	GRCh38
NC_000001.10:g.230825869T>C , CM000663.1:g.230825869T>C	GRCh37
NC_000001.9:g.228892492T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1904T>C MANE Select	ENSP00000355629.4:p.Leu635Pro
ENST00000366668.7:c.1901T>C	ENSP00000355628.3:p.Leu634Pro
ENST00000366669.8:c.1904T>C	ENSP00000355629.4:p.Leu635Pro
ENST00000468893.6:c.*1762T>C	ENSP00000476305.1:n.*1762T>C
ENST00000478710.1:n.163T>C
ENST00000490900.1:n.683T>C
ENST00000534989.1:c.1727T>C	ENSP00000440349.1:p.Leu576Pro
NM_001145036.1:c.1901T>C	NP_001138508.1:p.Leu634Pro
NM_007357.2:c.1904T>C	NP_031383.1:p.Leu635Pro
NM_007357.3:c.1904T>C MANE Select	NP_031383.1:p.Leu635Pro
NM_001145036.2:c.1901T>C	NP_001138508.1:p.Leu634Pro