Canonical Allele Identifier: CA368223907
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94422978-C-A
MyVariant Identifiers: chr7:g.94052290C>A (hg19) chr7:g.94422978C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422978C>A , CM000669.2:g.94422978C>A GRCh38
NC_000007.13:g.94052290C>A , CM000669.1:g.94052290C>A GRCh37
NC_000007.12:g.93890226C>A NCBI36
NG_007405.1:g.33418C>A , LRG_2:g.33418C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2425C>A MANE Select ENSP00000297268.6:p.Pro809Thr
ENST00000297268.10:c.2425C>A ENSP00000297268.6:p.Pro809Thr
ENST00000481570.5:n.508C>A
ENST00000497316.5:n.822C>A
ENST00000620463.1:c.2419C>A ENSP00000477719.1:p.Pro807Thr
NM_000089.3:c.2425C>A , LRG_2t1:c.2425C>A NP_000080.2:p.Pro809Thr
NM_000089.4:c.2425C>A MANE Select NP_000080.2:p.Pro809Thr
Search 100 bp 5'
Search 100 bp 3'