Canonical Allele Identifier: CA4346613
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447153
ClinVar RCV Id: RCV000517398 RCV002231633
dbSNP Id: rs371996944
ExAC: 7:94033860 C / T
gnomAD v2: 7-94033860-C-T
gnomAD v3: 7-94404548-C-T
gnomAD v4: 7-94404548-C-T
MyVariant Identifiers: chr7:g.94033860C>T (hg19) chr7:g.94404548C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404548C>T , CM000669.2:g.94404548C>T GRCh38
NC_000007.13:g.94033860C>T , CM000669.1:g.94033860C>T GRCh37
NC_000007.12:g.93871796C>T NCBI36
NG_007405.1:g.14988C>T , LRG_2:g.14988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-8C>T MANE Select ENSP00000297268.6:n.280-8C>T
ENST00000297268.10:c.280-8C>T ENSP00000297268.6:n.280-8C>T
ENST00000620463.1:c.274-8C>T ENSP00000477719.1:n.274-8C>T
NM_000089.3:c.280-8C>T , LRG_2t1:c.280-8C>T NP_000080.2:n.280-8C>T
NM_000089.4:c.280-8C>T MANE Select NP_000080.2:n.280-8C>T
Search 100 bp 5'
Search 100 bp 3'