Canonical Allele Identifier: CA1726776597
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423005C= , CM000669.2:g.94423005C= GRCh38
NC_000007.13:g.94052317C= , CM000669.1:g.94052317C= GRCh37
NC_000007.12:g.93890253C= NCBI36
NG_007405.1:g.33445C= , LRG_2:g.33445C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2452C= MANE Select ENSP00000297268.6:p.Leu818=
ENST00000297268.10:c.2452C= ENSP00000297268.6:p.Leu818=
ENST00000481570.5:n.535C=
ENST00000497316.5:n.849C=
ENST00000620463.1:c.2446C= ENSP00000477719.1:p.Leu816=
NM_000089.3:c.2452C= , LRG_2t1:c.2452C= NP_000080.2:p.Leu818=
NM_000089.4:c.2452C= MANE Select NP_000080.2:p.Leu818=
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