Canonical Allele Identifier: CA4347473
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195583
ClinVar RCV Id: RCV002628785
dbSNP Id: rs764720520
ExAC: 7:94052415 A / T
gnomAD v2: 7-94052415-A-T
gnomAD v3: 7-94423103-A-T
gnomAD v4: 7-94423103-A-T
MyVariant Identifiers: chr7:g.94052415A>T (hg19) chr7:g.94423103A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423103A>T , CM000669.2:g.94423103A>T GRCh38
NC_000007.13:g.94052415A>T , CM000669.1:g.94052415A>T GRCh37
NC_000007.12:g.93890351A>T NCBI36
NG_007405.1:g.33543A>T , LRG_2:g.33543A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2550A>T MANE Select ENSP00000297268.6:p.Gly850=
ENST00000297268.10:c.2550A>T ENSP00000297268.6:p.Gly850=
ENST00000481570.5:n.633A>T
ENST00000497316.5:n.947A>T
ENST00000620463.1:c.2544A>T ENSP00000477719.1:p.Gly848=
NM_000089.3:c.2550A>T , LRG_2t1:c.2550A>T NP_000080.2:p.Gly850=
NM_000089.4:c.2550A>T MANE Select NP_000080.2:p.Gly850=
Search 100 bp 5'
Search 100 bp 3'