Canonical Allele Identifier: CA576321455
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1181823046
gnomAD v2: 7-94030937-G-A
gnomAD v4: 7-94401625-G-A
MyVariant Identifiers: chr7:g.94030937G>A (hg19) chr7:g.94401625G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401625G>A , CM000669.2:g.94401625G>A GRCh38
NC_000007.13:g.94030937G>A , CM000669.1:g.94030937G>A GRCh37
NC_000007.12:g.93868873G>A NCBI36
NG_007405.1:g.12065G>A , LRG_2:g.12065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+5G>A MANE Select ENSP00000297268.6:n.279+5G>A
ENST00000297268.10:c.279+5G>A ENSP00000297268.6:n.279+5G>A
ENST00000620463.1:c.273+5G>A ENSP00000477719.1:n.273+5G>A
NM_000089.3:c.279+5G>A , LRG_2t1:c.279+5G>A NP_000080.2:n.279+5G>A
NM_000089.4:c.279+5G>A MANE Select NP_000080.2:n.279+5G>A
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