Canonical Allele Identifier: CA1104597897
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792196489
gnomAD v3: 7-94422896-G-A
gnomAD v4: 7-94422896-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422896G>A , CM000669.2:g.94422896G>A GRCh38
NC_000007.13:g.94052208G>A , CM000669.1:g.94052208G>A GRCh37
NC_000007.12:g.93890144G>A NCBI36
NG_007405.1:g.33336G>A , LRG_2:g.33336G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2404-61G>A MANE Select ENSP00000297268.6:n.2404-61G>A
ENST00000297268.10:c.2404-61G>A ENSP00000297268.6:n.2404-61G>A
ENST00000481570.5:n.426G>A
ENST00000497316.5:n.801-61G>A
ENST00000620463.1:c.2398-61G>A ENSP00000477719.1:n.2398-61G>A
NM_000089.3:c.2404-61G>A , LRG_2t1:c.2404-61G>A NP_000080.2:n.2404-61G>A
NM_000089.4:c.2404-61G>A MANE Select NP_000080.2:n.2404-61G>A
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