Canonical Allele Identifier: CA162938151
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs915508479
gnomAD v4: 7-94423218-G-A
MyVariant Identifiers: chr7:g.94052530G>A (hg19) chr7:g.94423218G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423218G>A , CM000669.2:g.94423218G>A GRCh38
NC_000007.13:g.94052530G>A , CM000669.1:g.94052530G>A GRCh37
NC_000007.12:g.93890466G>A NCBI36
NG_007405.1:g.33658G>A , LRG_2:g.33658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+100G>A MANE Select ENSP00000297268.6:n.2565+100G>A
ENST00000297268.10:c.2565+100G>A ENSP00000297268.6:n.2565+100G>A
ENST00000481570.5:n.748G>A
ENST00000620463.1:c.2559+100G>A ENSP00000477719.1:n.2559+100G>A
NM_000089.3:c.2565+100G>A , LRG_2t1:c.2565+100G>A NP_000080.2:n.2565+100G>A
NM_000089.4:c.2565+100G>A MANE Select NP_000080.2:n.2565+100G>A
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