Canonical Allele Identifier: CA1726776701
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423041C= , CM000669.2:g.94423041C= GRCh38
NC_000007.13:g.94052353C= , CM000669.1:g.94052353C= GRCh37
NC_000007.12:g.93890289C= NCBI36
NG_007405.1:g.33481C= , LRG_2:g.33481C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2488C= MANE Select ENSP00000297268.6:p.Arg830=
ENST00000297268.10:c.2488C= ENSP00000297268.6:p.Arg830=
ENST00000481570.5:n.571C=
ENST00000497316.5:n.885C=
ENST00000620463.1:c.2482C= ENSP00000477719.1:p.Arg828=
NM_000089.3:c.2488C= , LRG_2t1:c.2488C= NP_000080.2:p.Arg830=
NM_000089.4:c.2488C= MANE Select NP_000080.2:p.Arg830=
Search 100 bp 5'
Search 100 bp 3'