Canonical Allele Identifier: CA576321544
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2928711
ClinVar RCV Id: RCV003789485
dbSNP Id: rs762194836
gnomAD v2: 7-94033852-T-C
gnomAD v4: 7-94404540-T-C
MyVariant Identifiers: chr7:g.94033852T>C (hg19) chr7:g.94404540T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404540T>C , CM000669.2:g.94404540T>C GRCh38
NC_000007.13:g.94033852T>C , CM000669.1:g.94033852T>C GRCh37
NC_000007.12:g.93871788T>C NCBI36
NG_007405.1:g.14980T>C , LRG_2:g.14980T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-16T>C MANE Select ENSP00000297268.6:n.280-16T>C
ENST00000297268.10:c.280-16T>C ENSP00000297268.6:n.280-16T>C
ENST00000620463.1:c.274-16T>C ENSP00000477719.1:n.274-16T>C
NM_000089.3:c.280-16T>C , LRG_2t1:c.280-16T>C NP_000080.2:n.280-16T>C
NM_000089.4:c.280-16T>C MANE Select NP_000080.2:n.280-16T>C
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