Canonical Allele Identifier: CA1726792230
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404773_94404775delinsTAA , CM000669.2:g.94404773_94404775delinsTAA GRCh38
NC_000007.13:g.94034085_94034087delinsTAA , CM000669.1:g.94034085_94034087delinsTAA GRCh37
NC_000007.12:g.93872021_93872023delinsTAA NCBI36
NG_007405.1:g.15213_15215delinsTAA , LRG_2:g.15213_15215delinsTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+27_378+29delinsTAA MANE Select ENSP00000297268.6:n.378+27_378+29delinsTAA
ENST00000297268.10:c.378+27_378+29delinsTAA ENSP00000297268.6:n.378+27_378+29delinsTAA
ENST00000620463.1:c.372+27_372+29delinsTAA ENSP00000477719.1:n.372+27_372+29delinsTAA
NM_000089.3:c.378+27_378+29delinsTAA , LRG_2t1:c.378+27_378+29delinsTAA NP_000080.2:n.378+27_378+29delinsTAA
NM_000089.4:c.378+27_378+29delinsTAA MANE Select NP_000080.2:n.378+27_378+29delinsTAA
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