Canonical Allele Identifier: CA456489593
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052322T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423010T>A , CM000669.2:g.94423010T>A GRCh38
NC_000007.13:g.94052322T>A , CM000669.1:g.94052322T>A GRCh37
NC_000007.12:g.93890258T>A NCBI36
NG_007405.1:g.33450T>A , LRG_2:g.33450T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2457T>A MANE Select ENSP00000297268.6:p.Arg819=
ENST00000297268.10:c.2457T>A ENSP00000297268.6:p.Arg819=
ENST00000481570.5:n.540T>A
ENST00000497316.5:n.854T>A
ENST00000620463.1:c.2451T>A ENSP00000477719.1:p.Arg817=
NM_000089.3:c.2457T>A , LRG_2t1:c.2457T>A NP_000080.2:p.Arg819=
NM_000089.4:c.2457T>A MANE Select NP_000080.2:p.Arg819=
Search 100 bp 5'
Search 100 bp 3'