Canonical Allele Identifier: CA162938173
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1031474763
gnomAD v2: 7-94052596-T-G
gnomAD v3: 7-94423284-T-G
gnomAD v4: 7-94423284-T-G
MyVariant Identifiers: chr7:g.94052596T>G (hg19) chr7:g.94423284T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423284T>G , CM000669.2:g.94423284T>G GRCh38
NC_000007.13:g.94052596T>G , CM000669.1:g.94052596T>G GRCh37
NC_000007.12:g.93890532T>G NCBI36
NG_007405.1:g.33724T>G , LRG_2:g.33724T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+166T>G MANE Select ENSP00000297268.6:n.2565+166T>G
ENST00000297268.10:c.2565+166T>G ENSP00000297268.6:n.2565+166T>G
ENST00000481570.5:n.814T>G
ENST00000620463.1:c.2559+166T>G ENSP00000477719.1:n.2559+166T>G
NM_000089.3:c.2565+166T>G , LRG_2t1:c.2565+166T>G NP_000080.2:n.2565+166T>G
NM_000089.4:c.2565+166T>G MANE Select NP_000080.2:n.2565+166T>G
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