Canonical Allele Identifier: CA16042607
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373093
ClinVar RCV Id: RCV000414112 RCV002230748
dbSNP Id: rs928361235
gnomAD v3: 7-94423084-G-C
gnomAD v4: 7-94423084-G-C
MyVariant Identifiers: chr7:g.94052396G>C (hg19) chr7:g.94423084G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423084G>C , CM000669.2:g.94423084G>C GRCh38
NC_000007.13:g.94052396G>C , CM000669.1:g.94052396G>C GRCh37
NC_000007.12:g.93890332G>C NCBI36
NG_007405.1:g.33524G>C , LRG_2:g.33524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2531G>C MANE Select ENSP00000297268.6:p.Gly844Ala
ENST00000297268.10:c.2531G>C ENSP00000297268.6:p.Gly844Ala
ENST00000481570.5:n.614G>C
ENST00000497316.5:n.928G>C
ENST00000620463.1:c.2525G>C ENSP00000477719.1:p.Gly842Ala
NM_000089.3:c.2531G>C , LRG_2t1:c.2531G>C NP_000080.2:p.Gly844Ala
NM_000089.4:c.2531G>C MANE Select NP_000080.2:p.Gly844Ala
Search 100 bp 5'
Search 100 bp 3'