Canonical Allele Identifier: CA1726776115
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422784T= , CM000669.2:g.94422784T= GRCh38
NC_000007.13:g.94052096T= , CM000669.1:g.94052096T= GRCh37
NC_000007.12:g.93890032T= NCBI36
NG_007405.1:g.33224T= , LRG_2:g.33224T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-173T= MANE Select ENSP00000297268.6:n.2404-173T=
ENST00000297268.10:c.2404-173T= ENSP00000297268.6:n.2404-173T=
ENST00000481570.5:n.314T=
ENST00000497316.5:n.801-173T=
ENST00000620463.1:c.2398-173T= ENSP00000477719.1:n.2398-173T=
NM_000089.3:c.2404-173T= , LRG_2t1:c.2404-173T= NP_000080.2:n.2404-173T=
NM_000089.4:c.2404-173T= MANE Select NP_000080.2:n.2404-173T=
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