Canonical Allele Identifier: CA456489586
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052313A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423001A>G , CM000669.2:g.94423001A>G GRCh38
NC_000007.13:g.94052313A>G , CM000669.1:g.94052313A>G GRCh37
NC_000007.12:g.93890249A>G NCBI36
NG_007405.1:g.33441A>G , LRG_2:g.33441A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2448A>G MANE Select ENSP00000297268.6:p.Glu816=
ENST00000297268.10:c.2448A>G ENSP00000297268.6:p.Glu816=
ENST00000481570.5:n.531A>G
ENST00000497316.5:n.845A>G
ENST00000620463.1:c.2442A>G ENSP00000477719.1:p.Glu814=
NM_000089.3:c.2448A>G , LRG_2t1:c.2448A>G NP_000080.2:p.Glu816=
NM_000089.4:c.2448A>G MANE Select NP_000080.2:p.Glu816=
Search 100 bp 5'
Search 100 bp 3'