Canonical Allele Identifier: CA4347477
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 360963
ClinVar RCV Id: RCV000303250 RCV000357996 RCV001573359 RCV002058686
dbSNP Id: rs541473356
ExAC: 7:94052428 G / A
gnomAD v2: 7-94052428-G-A
gnomAD v3: 7-94423116-G-A
gnomAD v4: 7-94423116-G-A
MyVariant Identifiers: chr7:g.94052428G>A (hg19) chr7:g.94423116G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423116G>A , CM000669.2:g.94423116G>A GRCh38
NC_000007.13:g.94052428G>A , CM000669.1:g.94052428G>A GRCh37
NC_000007.12:g.93890364G>A NCBI36
NG_007405.1:g.33556G>A , LRG_2:g.33556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2563G>A MANE Select ENSP00000297268.6:p.Ala855Thr
ENST00000297268.10:c.2563G>A ENSP00000297268.6:p.Ala855Thr
ENST00000481570.5:n.646G>A
ENST00000497316.5:n.960G>A
ENST00000620463.1:c.2557G>A ENSP00000477719.1:p.Ala853Thr
NM_000089.3:c.2563G>A , LRG_2t1:c.2563G>A NP_000080.2:p.Ala855Thr
NM_000089.4:c.2563G>A MANE Select NP_000080.2:p.Ala855Thr
Search 100 bp 5'
Search 100 bp 3'