Canonical Allele Identifier: CA1726777298
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423284T= , CM000669.2:g.94423284T= GRCh38
NC_000007.13:g.94052596T= , CM000669.1:g.94052596T= GRCh37
NC_000007.12:g.93890532T= NCBI36
NG_007405.1:g.33724T= , LRG_2:g.33724T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+166T= MANE Select ENSP00000297268.6:n.2565+166T=
ENST00000297268.10:c.2565+166T= ENSP00000297268.6:n.2565+166T=
ENST00000481570.5:n.814T=
ENST00000620463.1:c.2559+166T= ENSP00000477719.1:n.2559+166T=
NM_000089.3:c.2565+166T= , LRG_2t1:c.2565+166T= NP_000080.2:n.2565+166T=
NM_000089.4:c.2565+166T= MANE Select NP_000080.2:n.2565+166T=
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