Canonical Allele Identifier: CA368224163
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1313310356
gnomAD v2: 7-94052426-C-A
gnomAD v4: 7-94423114-C-A
MyVariant Identifiers: chr7:g.94052426C>A (hg19) chr7:g.94423114C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423114C>A , CM000669.2:g.94423114C>A GRCh38
NC_000007.13:g.94052426C>A , CM000669.1:g.94052426C>A GRCh37
NC_000007.12:g.93890362C>A NCBI36
NG_007405.1:g.33554C>A , LRG_2:g.33554C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2561C>A MANE Select ENSP00000297268.6:p.Thr854Asn
ENST00000297268.10:c.2561C>A ENSP00000297268.6:p.Thr854Asn
ENST00000481570.5:n.644C>A
ENST00000497316.5:n.958C>A
ENST00000620463.1:c.2555C>A ENSP00000477719.1:p.Thr852Asn
NM_000089.3:c.2561C>A , LRG_2t1:c.2561C>A NP_000080.2:p.Thr854Asn
NM_000089.4:c.2561C>A MANE Select NP_000080.2:p.Thr854Asn
Search 100 bp 5'
Search 100 bp 3'