Canonical Allele Identifier: CA1726782941
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426286C= , CM000669.2:g.94426286C= GRCh38
NC_000007.13:g.94055598C= , CM000669.1:g.94055598C= GRCh37
NC_000007.12:g.93893534C= NCBI36
NG_007405.1:g.36726C= , LRG_2:g.36726C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-137C= MANE Select ENSP00000297268.6:n.2998-137C=
ENST00000297268.10:c.2998-137C= ENSP00000297268.6:n.2998-137C=
ENST00000478215.1:n.557-137C=
ENST00000481570.5:n.2971-137C=
ENST00000620463.1:c.2992-137C= ENSP00000477719.1:n.2992-137C=
NM_000089.3:c.2998-137C= , LRG_2t1:c.2998-137C= NP_000080.2:n.2998-137C=
NM_000089.4:c.2998-137C= MANE Select NP_000080.2:n.2998-137C=
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