Canonical Allele Identifier: CA1726776182
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792194985
gnomAD v4: 7-94422827-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422827C>T , CM000669.2:g.94422827C>T GRCh38
NC_000007.13:g.94052139C>T , CM000669.1:g.94052139C>T GRCh37
NC_000007.12:g.93890075C>T NCBI36
NG_007405.1:g.33267C>T , LRG_2:g.33267C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2404-130C>T MANE Select ENSP00000297268.6:n.2404-130C>T
ENST00000297268.10:c.2404-130C>T ENSP00000297268.6:n.2404-130C>T
ENST00000481570.5:n.357C>T
ENST00000497316.5:n.801-130C>T
ENST00000620463.1:c.2398-130C>T ENSP00000477719.1:n.2398-130C>T
NM_000089.3:c.2404-130C>T , LRG_2t1:c.2404-130C>T NP_000080.2:n.2404-130C>T
NM_000089.4:c.2404-130C>T MANE Select NP_000080.2:n.2404-130C>T
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