Canonical Allele Identifier: CA1726776289
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422897C= , CM000669.2:g.94422897C= GRCh38
NC_000007.13:g.94052209C= , CM000669.1:g.94052209C= GRCh37
NC_000007.12:g.93890145C= NCBI36
NG_007405.1:g.33337C= , LRG_2:g.33337C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-60C= MANE Select ENSP00000297268.6:n.2404-60C=
ENST00000297268.10:c.2404-60C= ENSP00000297268.6:n.2404-60C=
ENST00000481570.5:n.427C=
ENST00000497316.5:n.801-60C=
ENST00000620463.1:c.2398-60C= ENSP00000477719.1:n.2398-60C=
NM_000089.3:c.2404-60C= , LRG_2t1:c.2404-60C= NP_000080.2:n.2404-60C=
NM_000089.4:c.2404-60C= MANE Select NP_000080.2:n.2404-60C=