Canonical Allele Identifier: CA4346600
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs780817106
ExAC: 7:94030953 T / C
gnomAD v2: 7-94030953-T-C
gnomAD v3: 7-94401641-T-C
gnomAD v4: 7-94401641-T-C
MyVariant Identifiers: chr7:g.94030953T>C (hg19) chr7:g.94030953_94030958delinsCAGCCA (hg19) chr7:g.94401641T>C (hg38) chr7:g.94401641_94401646delinsCAGCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401641T>C , CM000669.2:g.94401641T>C GRCh38
NC_000007.13:g.94030953T>C , CM000669.1:g.94030953T>C GRCh37
NC_000007.12:g.93868889T>C NCBI36
NG_007405.1:g.12081T>C , LRG_2:g.12081T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+21T>C MANE Select ENSP00000297268.6:n.279+21T>C
ENST00000297268.10:c.279+21T>C ENSP00000297268.6:n.279+21T>C
ENST00000620463.1:c.273+21T>C ENSP00000477719.1:n.273+21T>C
NM_000089.3:c.279+21T>C , LRG_2t1:c.279+21T>C NP_000080.2:n.279+21T>C
NM_000089.4:c.279+21T>C MANE Select NP_000080.2:n.279+21T>C
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