Canonical Allele Identifier: CA16043430
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374196
ClinVar RCV Id: RCV000415158
dbSNP Id: rs1057518967
MyVariant Identifiers: chr7:g.94052414G>A (hg19) chr7:g.94423102G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423102G>A , CM000669.2:g.94423102G>A GRCh38
NC_000007.13:g.94052414G>A , CM000669.1:g.94052414G>A GRCh37
NC_000007.12:g.93890350G>A NCBI36
NG_007405.1:g.33542G>A , LRG_2:g.33542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2549G>A MANE Select ENSP00000297268.6:p.Gly850Glu
ENST00000297268.10:c.2549G>A ENSP00000297268.6:p.Gly850Glu
ENST00000481570.5:n.632G>A
ENST00000497316.5:n.946G>A
ENST00000620463.1:c.2543G>A ENSP00000477719.1:p.Gly848Glu
NM_000089.3:c.2549G>A , LRG_2t1:c.2549G>A NP_000080.2:p.Gly850Glu
NM_000089.4:c.2549G>A MANE Select NP_000080.2:p.Gly850Glu
Search 100 bp 5'
Search 100 bp 3'