Canonical Allele Identifier: CA1726776230
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422863A= , CM000669.2:g.94422863A= GRCh38
NC_000007.13:g.94052175A= , CM000669.1:g.94052175A= GRCh37
NC_000007.12:g.93890111A= NCBI36
NG_007405.1:g.33303A= , LRG_2:g.33303A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-94A= MANE Select ENSP00000297268.6:n.2404-94A=
ENST00000297268.10:c.2404-94A= ENSP00000297268.6:n.2404-94A=
ENST00000481570.5:n.393A=
ENST00000497316.5:n.801-94A=
ENST00000620463.1:c.2398-94A= ENSP00000477719.1:n.2398-94A=
NM_000089.3:c.2404-94A= , LRG_2t1:c.2404-94A= NP_000080.2:n.2404-94A=
NM_000089.4:c.2404-94A= MANE Select NP_000080.2:n.2404-94A=