Canonical Allele Identifier: CA1726776523
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422982_94422983delinsCT , CM000669.2:g.94422982_94422983delinsCT GRCh38
NC_000007.13:g.94052294_94052295delinsCT , CM000669.1:g.94052294_94052295delinsCT GRCh37
NC_000007.12:g.93890230_93890231delinsCT NCBI36
NG_007405.1:g.33422_33423delinsCT , LRG_2:g.33422_33423delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2429_2430delinsCT MANE Select ENSP00000297268.6:p.Pro810=
ENST00000297268.10:c.2429_2430delinsCT ENSP00000297268.6:p.Pro810=
ENST00000481570.5:n.512_513delinsCT
ENST00000497316.5:n.826_827delinsCT
ENST00000620463.1:c.2423_2424delinsCT ENSP00000477719.1:p.Pro808=
NM_000089.3:c.2429_2430delinsCT , LRG_2t1:c.2429_2430delinsCT NP_000080.2:p.Pro810=
NM_000089.4:c.2429_2430delinsCT MANE Select NP_000080.2:p.Pro810=
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