Canonical Allele Identifier: CA368223969
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423008C>G , CM000669.2:g.94423008C>G GRCh38
NC_000007.13:g.94052320C>G , CM000669.1:g.94052320C>G GRCh37
NC_000007.12:g.93890256C>G NCBI36
NG_007405.1:g.33448C>G , LRG_2:g.33448C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2455C>G MANE Select ENSP00000297268.6:p.Arg819Gly
ENST00000297268.10:c.2455C>G ENSP00000297268.6:p.Arg819Gly
ENST00000481570.5:n.538C>G
ENST00000497316.5:n.852C>G
ENST00000620463.1:c.2449C>G ENSP00000477719.1:p.Arg817Gly
NM_000089.3:c.2455C>G , LRG_2t1:c.2455C>G NP_000080.2:p.Arg819Gly
NM_000089.4:c.2455C>G MANE Select NP_000080.2:p.Arg819Gly