Canonical Allele Identifier: CA162914021
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 810131
ClinVar RCV Id: RCV000998841 RCV002434386
dbSNP Id: rs992225434
gnomAD v4: 7-94404558-C-T
MyVariant Identifiers: chr7:g.94033870C>T (hg19) chr7:g.94404558C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.282C>T MANE Select ENSP00000297268.6:p.Gly94=
ENST00000297268.10:c.282C>T ENSP00000297268.6:p.Gly94=
ENST00000620463.1:c.276C>T ENSP00000477719.1:p.Gly92=
NM_000089.3:c.282C>T , LRG_2t1:c.282C>T NP_000080.2:p.Gly94=
NM_000089.4:c.282C>T MANE Select NP_000080.2:p.Gly94=
Search 100 bp 5'
Search 100 bp 3'