Canonical Allele Identifier: CA456487023
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1796552
ClinVar RCV Id: RCV002435083
dbSNP Id: rs992225434
gnomAD v2: 7-94033870-C-A
gnomAD v4: 7-94404558-C-A
MyVariant Identifiers: chr7:g.94033870C>A (hg19) chr7:g.94404558C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404558C>A , CM000669.2:g.94404558C>A GRCh38
NC_000007.13:g.94033870C>A , CM000669.1:g.94033870C>A GRCh37
NC_000007.12:g.93871806C>A NCBI36
NG_007405.1:g.14998C>A , LRG_2:g.14998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.282C>A MANE Select ENSP00000297268.6:p.Gly94=
ENST00000297268.10:c.282C>A ENSP00000297268.6:p.Gly94=
ENST00000620463.1:c.276C>A ENSP00000477719.1:p.Gly92=
NM_000089.3:c.282C>A , LRG_2t1:c.282C>A NP_000080.2:p.Gly94=
NM_000089.4:c.282C>A MANE Select NP_000080.2:p.Gly94=
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