Canonical Allele Identifier: CA162938098
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1124859
ClinVar RCV Id: RCV002240272
dbSNP Id: rs368445054
gnomAD v2: 7-94052437-G-A
gnomAD v3: 7-94423125-G-A
gnomAD v4: 7-94423125-G-A
MyVariant Identifiers: chr7:g.94052437G>A (hg19) chr7:g.94423125G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423125G>A , CM000669.2:g.94423125G>A GRCh38
NC_000007.13:g.94052437G>A , CM000669.1:g.94052437G>A GRCh37
NC_000007.12:g.93890373G>A NCBI36
NG_007405.1:g.33565G>A , LRG_2:g.33565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+7G>A MANE Select ENSP00000297268.6:n.2565+7G>A
ENST00000297268.10:c.2565+7G>A ENSP00000297268.6:n.2565+7G>A
ENST00000481570.5:n.655G>A
ENST00000620463.1:c.2559+7G>A ENSP00000477719.1:n.2559+7G>A
NM_000089.3:c.2565+7G>A , LRG_2t1:c.2565+7G>A NP_000080.2:n.2565+7G>A
NM_000089.4:c.2565+7G>A MANE Select NP_000080.2:n.2565+7G>A
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