Canonical Allele Identifier: CA1726777066
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423136C= , CM000669.2:g.94423136C= GRCh38
NC_000007.13:g.94052448C= , CM000669.1:g.94052448C= GRCh37
NC_000007.12:g.93890384C= NCBI36
NG_007405.1:g.33576C= , LRG_2:g.33576C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+18C= MANE Select ENSP00000297268.6:n.2565+18C=
ENST00000297268.10:c.2565+18C= ENSP00000297268.6:n.2565+18C=
ENST00000481570.5:n.666C=
ENST00000620463.1:c.2559+18C= ENSP00000477719.1:n.2559+18C=
NM_000089.3:c.2565+18C= , LRG_2t1:c.2565+18C= NP_000080.2:n.2565+18C=
NM_000089.4:c.2565+18C= MANE Select NP_000080.2:n.2565+18C=
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