Canonical Allele Identifier: CA368225211
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426498-C-A
MyVariant Identifiers: chr7:g.94055810C>A (hg19) chr7:g.94426498C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426498C>A , CM000669.2:g.94426498C>A GRCh38
NC_000007.13:g.94055810C>A , CM000669.1:g.94055810C>A GRCh37
NC_000007.12:g.93893746C>A NCBI36
NG_007405.1:g.36938C>A , LRG_2:g.36938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3073C>A MANE Select ENSP00000297268.6:p.His1025Asn
ENST00000297268.10:c.3073C>A ENSP00000297268.6:p.His1025Asn
ENST00000478215.1:n.632C>A
ENST00000481570.5:n.3046C>A
ENST00000620463.1:c.3067C>A ENSP00000477719.1:p.His1023Asn
NM_000089.3:c.3073C>A , LRG_2t1:c.3073C>A NP_000080.2:p.His1025Asn
NM_000089.4:c.3073C>A MANE Select NP_000080.2:p.His1025Asn
Search 100 bp 5'
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