Canonical Allele Identifier: CA4347486
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs775873981
ExAC: 7:94053601 T / A
gnomAD v2: 7-94053601-T-A
gnomAD v4: 7-94424289-T-A
MyVariant Identifiers: chr7:g.94053601T>A (hg19) chr7:g.94424289T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424289T>A , CM000669.2:g.94424289T>A GRCh38
NC_000007.13:g.94053601T>A , CM000669.1:g.94053601T>A GRCh37
NC_000007.12:g.93891537T>A NCBI36
NG_007405.1:g.34729T>A , LRG_2:g.34729T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2566-47T>A MANE Select ENSP00000297268.6:n.2566-47T>A
ENST00000297268.10:c.2566-47T>A ENSP00000297268.6:n.2566-47T>A
ENST00000469732.1:n.302T>A
ENST00000481570.5:n.1819T>A
ENST00000620463.1:c.2560-47T>A ENSP00000477719.1:n.2560-47T>A
NM_000089.3:c.2566-47T>A , LRG_2t1:c.2566-47T>A NP_000080.2:n.2566-47T>A
NM_000089.4:c.2566-47T>A MANE Select NP_000080.2:n.2566-47T>A
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