Canonical Allele Identifier: CA2568936694
Gene: COL1A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404806_94404812del , CM000669.2:g.94404806_94404812del GRCh38
NC_000007.13:g.94034118_94034124del , CM000669.1:g.94034118_94034124del GRCh37
NC_000007.12:g.93872054_93872060del NCBI36
NG_007405.1:g.15246_15252del , LRG_2:g.15246_15252del

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.379-33_379-27del MANE Select ENSP00000297268.6:n.379-33_379-27del
ENST00000297268.10:c.379-33_379-27del ENSP00000297268.6:n.379-33_379-27del
ENST00000620463.1:c.373-33_373-27del ENSP00000477719.1:n.373-33_373-27del
NM_000089.3:c.379-33_379-27del , LRG_2t1:c.379-33_379-27del NP_000080.2:n.379-33_379-27del
NM_000089.4:c.379-33_379-27del MANE Select NP_000080.2:n.379-33_379-27del
Search 100 bp 5'
Search 100 bp 3'