Canonical Allele Identifier: CA2683772175
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423263-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423263C>T , CM000669.2:g.94423263C>T GRCh38
NC_000007.13:g.94052575C>T , CM000669.1:g.94052575C>T GRCh37
NC_000007.12:g.93890511C>T NCBI36
NG_007405.1:g.33703C>T , LRG_2:g.33703C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+145C>T MANE Select ENSP00000297268.6:n.2565+145C>T
ENST00000297268.10:c.2565+145C>T ENSP00000297268.6:n.2565+145C>T
ENST00000481570.5:n.793C>T
ENST00000620463.1:c.2559+145C>T ENSP00000477719.1:n.2559+145C>T
NM_000089.3:c.2565+145C>T , LRG_2t1:c.2565+145C>T NP_000080.2:n.2565+145C>T
NM_000089.4:c.2565+145C>T MANE Select NP_000080.2:n.2565+145C>T
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