Canonical Allele Identifier: CA368224133
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423098-T-C
MyVariant Identifiers: chr7:g.94052410T>C (hg19) chr7:g.94423098T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423098T>C , CM000669.2:g.94423098T>C GRCh38
NC_000007.13:g.94052410T>C , CM000669.1:g.94052410T>C GRCh37
NC_000007.12:g.93890346T>C NCBI36
NG_007405.1:g.33538T>C , LRG_2:g.33538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2545T>C MANE Select ENSP00000297268.6:p.Ser849Pro
ENST00000297268.10:c.2545T>C ENSP00000297268.6:p.Ser849Pro
ENST00000481570.5:n.628T>C
ENST00000497316.5:n.942T>C
ENST00000620463.1:c.2539T>C ENSP00000477719.1:p.Ser847Pro
NM_000089.3:c.2545T>C , LRG_2t1:c.2545T>C NP_000080.2:p.Ser849Pro
NM_000089.4:c.2545T>C MANE Select NP_000080.2:p.Ser849Pro
Search 100 bp 5'
Search 100 bp 3'