Canonical Allele Identifier: CA1726778561
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424286T= , CM000669.2:g.94424286T= GRCh38
NC_000007.13:g.94053598T= , CM000669.1:g.94053598T= GRCh37
NC_000007.12:g.93891534T= NCBI36
NG_007405.1:g.34726T= , LRG_2:g.34726T=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2566-50T= MANE Select ENSP00000297268.6:n.2566-50T=
ENST00000297268.10:c.2566-50T= ENSP00000297268.6:n.2566-50T=
ENST00000469732.1:n.299T=
ENST00000481570.5:n.1816T=
ENST00000620463.1:c.2560-50T= ENSP00000477719.1:n.2560-50T=
NM_000089.3:c.2566-50T= , LRG_2t1:c.2566-50T= NP_000080.2:n.2566-50T=
NM_000089.4:c.2566-50T= MANE Select NP_000080.2:n.2566-50T=
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