Canonical Allele Identifier: CA368224165
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052426C>T (hg19) chr7:g.94423114C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423114C>T , CM000669.2:g.94423114C>T GRCh38
NC_000007.13:g.94052426C>T , CM000669.1:g.94052426C>T GRCh37
NC_000007.12:g.93890362C>T NCBI36
NG_007405.1:g.33554C>T , LRG_2:g.33554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2561C>T MANE Select ENSP00000297268.6:p.Thr854Ile
ENST00000297268.10:c.2561C>T ENSP00000297268.6:p.Thr854Ile
ENST00000481570.5:n.644C>T
ENST00000497316.5:n.958C>T
ENST00000620463.1:c.2555C>T ENSP00000477719.1:p.Thr852Ile
NM_000089.3:c.2561C>T , LRG_2t1:c.2561C>T NP_000080.2:p.Thr854Ile
NM_000089.4:c.2561C>T MANE Select NP_000080.2:p.Thr854Ile
Search 100 bp 5'
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