Canonical Allele Identifier: CA368219445
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310061
ClinVar RCV Id: RCV001757129
dbSNP Id: rs765868569
gnomAD v4: 7-94404568-C-A
MyVariant Identifiers: chr7:g.94033880C>A (hg19) chr7:g.94404568C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404568C>A , CM000669.2:g.94404568C>A GRCh38
NC_000007.13:g.94033880C>A , CM000669.1:g.94033880C>A GRCh37
NC_000007.12:g.93871816C>A NCBI36
NG_007405.1:g.15008C>A , LRG_2:g.15008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.292C>A MANE Select ENSP00000297268.6:p.Pro98Thr
ENST00000297268.10:c.292C>A ENSP00000297268.6:p.Pro98Thr
ENST00000620463.1:c.286C>A ENSP00000477719.1:p.Pro96Thr
NM_000089.3:c.292C>A , LRG_2t1:c.292C>A NP_000080.2:p.Pro98Thr
NM_000089.4:c.292C>A MANE Select NP_000080.2:p.Pro98Thr
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