Canonical Allele Identifier: CA1726776952
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423089A= , CM000669.2:g.94423089A= GRCh38
NC_000007.13:g.94052401A= , CM000669.1:g.94052401A= GRCh37
NC_000007.12:g.93890337A= NCBI36
NG_007405.1:g.33529A= , LRG_2:g.33529A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2536A= MANE Select ENSP00000297268.6:p.Lys846=
ENST00000297268.10:c.2536A= ENSP00000297268.6:p.Lys846=
ENST00000481570.5:n.619A=
ENST00000497316.5:n.933A=
ENST00000620463.1:c.2530A= ENSP00000477719.1:p.Lys844=
NM_000089.3:c.2536A= , LRG_2t1:c.2536A= NP_000080.2:p.Lys846=
NM_000089.4:c.2536A= MANE Select NP_000080.2:p.Lys846=
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