Canonical Allele Identifier: CA456489561
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052283T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422971T>G , CM000669.2:g.94422971T>G GRCh38
NC_000007.13:g.94052283T>G , CM000669.1:g.94052283T>G GRCh37
NC_000007.12:g.93890219T>G NCBI36
NG_007405.1:g.33411T>G , LRG_2:g.33411T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2418T>G MANE Select ENSP00000297268.6:p.Pro806=
ENST00000297268.10:c.2418T>G ENSP00000297268.6:p.Pro806=
ENST00000481570.5:n.501T>G
ENST00000497316.5:n.815T>G
ENST00000620463.1:c.2412T>G ENSP00000477719.1:p.Pro804=
NM_000089.3:c.2418T>G , LRG_2t1:c.2418T>G NP_000080.2:p.Pro806=
NM_000089.4:c.2418T>G MANE Select NP_000080.2:p.Pro806=
Search 100 bp 5'
Search 100 bp 3'