Canonical Allele Identifier: CA368224173
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458736
ClinVar RCV Id: RCV001956522
dbSNP Id: rs2115941689
MyVariant Identifiers: chr7:g.94052432T>A (hg19) chr7:g.94423120T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423120T>A , CM000669.2:g.94423120T>A GRCh38
NC_000007.13:g.94052432T>A , CM000669.1:g.94052432T>A GRCh37
NC_000007.12:g.93890368T>A NCBI36
NG_007405.1:g.33560T>A , LRG_2:g.33560T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+2T>A MANE Select ENSP00000297268.6:n.2565+2T>A
ENST00000297268.10:c.2565+2T>A ENSP00000297268.6:n.2565+2T>A
ENST00000481570.5:n.650T>A
ENST00000620463.1:c.2559+2T>A ENSP00000477719.1:n.2559+2T>A
NM_000089.3:c.2565+2T>A , LRG_2t1:c.2565+2T>A NP_000080.2:n.2565+2T>A
NM_000089.4:c.2565+2T>A MANE Select NP_000080.2:n.2565+2T>A
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