Canonical Allele Identifier: CA1726777223
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423229A= , CM000669.2:g.94423229A= GRCh38
NC_000007.13:g.94052541A= , CM000669.1:g.94052541A= GRCh37
NC_000007.12:g.93890477A= NCBI36
NG_007405.1:g.33669A= , LRG_2:g.33669A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+111A= MANE Select ENSP00000297268.6:n.2565+111A=
ENST00000297268.10:c.2565+111A= ENSP00000297268.6:n.2565+111A=
ENST00000481570.5:n.759A=
ENST00000620463.1:c.2559+111A= ENSP00000477719.1:n.2559+111A=
NM_000089.3:c.2565+111A= , LRG_2t1:c.2565+111A= NP_000080.2:n.2565+111A=
NM_000089.4:c.2565+111A= MANE Select NP_000080.2:n.2565+111A=
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