Canonical Allele Identifier: CA1726776349
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422938_94422939delinsCT , CM000669.2:g.94422938_94422939delinsCT GRCh38
NC_000007.13:g.94052250_94052251delinsCT , CM000669.1:g.94052250_94052251delinsCT GRCh37
NC_000007.12:g.93890186_93890187delinsCT NCBI36
NG_007405.1:g.33378_33379delinsCT , LRG_2:g.33378_33379delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-19_2404-18delinsCT MANE Select ENSP00000297268.6:n.2404-19_2404-18delinsCT
ENST00000297268.10:c.2404-19_2404-18delinsCT ENSP00000297268.6:n.2404-19_2404-18delinsCT
ENST00000481570.5:n.468_469delinsCT
ENST00000497316.5:n.801-19_801-18delinsCT
ENST00000620463.1:c.2398-19_2398-18delinsCT ENSP00000477719.1:n.2398-19_2398-18delinsCT
NM_000089.3:c.2404-19_2404-18delinsCT , LRG_2t1:c.2404-19_2404-18delinsCT NP_000080.2:n.2404-19_2404-18delinsCT
NM_000089.4:c.2404-19_2404-18delinsCT MANE Select NP_000080.2:n.2404-19_2404-18delinsCT
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