Canonical Allele Identifier: CA2683773746
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426365-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426365A>T , CM000669.2:g.94426365A>T GRCh38
NC_000007.13:g.94055677A>T , CM000669.1:g.94055677A>T GRCh37
NC_000007.12:g.93893613A>T NCBI36
NG_007405.1:g.36805A>T , LRG_2:g.36805A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-58A>T MANE Select ENSP00000297268.6:n.2998-58A>T
ENST00000297268.10:c.2998-58A>T ENSP00000297268.6:n.2998-58A>T
ENST00000478215.1:n.557-58A>T
ENST00000481570.5:n.2971-58A>T
ENST00000620463.1:c.2992-58A>T ENSP00000477719.1:n.2992-58A>T
NM_000089.3:c.2998-58A>T , LRG_2t1:c.2998-58A>T NP_000080.2:n.2998-58A>T
NM_000089.4:c.2998-58A>T MANE Select NP_000080.2:n.2998-58A>T
Search 100 bp 5'
Search 100 bp 3'