Canonical Allele Identifier: CA4347639
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2066287
ClinVar RCV Id: RCV002949012
dbSNP Id: rs768118794
ExAC: 7:94055716 T / C
gnomAD v2: 7-94055716-T-C
gnomAD v4: 7-94426404-T-C
MyVariant Identifiers: chr7:g.94055716T>C (hg19) chr7:g.94426404T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426404T>C , CM000669.2:g.94426404T>C GRCh38
NC_000007.13:g.94055716T>C , CM000669.1:g.94055716T>C GRCh37
NC_000007.12:g.93893652T>C NCBI36
NG_007405.1:g.36844T>C , LRG_2:g.36844T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-19T>C MANE Select ENSP00000297268.6:n.2998-19T>C
ENST00000297268.10:c.2998-19T>C ENSP00000297268.6:n.2998-19T>C
ENST00000478215.1:n.557-19T>C
ENST00000481570.5:n.2971-19T>C
ENST00000620463.1:c.2992-19T>C ENSP00000477719.1:n.2992-19T>C
NM_000089.3:c.2998-19T>C , LRG_2t1:c.2998-19T>C NP_000080.2:n.2998-19T>C
NM_000089.4:c.2998-19T>C MANE Select NP_000080.2:n.2998-19T>C
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