Canonical Allele Identifier: CA368224074
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052381C>A (hg19) chr7:g.94423069C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423069C>A , CM000669.2:g.94423069C>A GRCh38
NC_000007.13:g.94052381C>A , CM000669.1:g.94052381C>A GRCh37
NC_000007.12:g.93890317C>A NCBI36
NG_007405.1:g.33509C>A , LRG_2:g.33509C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2516C>A MANE Select ENSP00000297268.6:p.Pro839His
ENST00000297268.10:c.2516C>A ENSP00000297268.6:p.Pro839His
ENST00000481570.5:n.599C>A
ENST00000497316.5:n.913C>A
ENST00000620463.1:c.2510C>A ENSP00000477719.1:p.Pro837His
NM_000089.3:c.2516C>A , LRG_2t1:c.2516C>A NP_000080.2:p.Pro839His
NM_000089.4:c.2516C>A MANE Select NP_000080.2:p.Pro839His
Search 100 bp 5'
Search 100 bp 3'