Canonical Allele Identifier: CA2683772166
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423257-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423257G>T , CM000669.2:g.94423257G>T GRCh38
NC_000007.13:g.94052569G>T , CM000669.1:g.94052569G>T GRCh37
NC_000007.12:g.93890505G>T NCBI36
NG_007405.1:g.33697G>T , LRG_2:g.33697G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+139G>T MANE Select ENSP00000297268.6:n.2565+139G>T
ENST00000297268.10:c.2565+139G>T ENSP00000297268.6:n.2565+139G>T
ENST00000481570.5:n.787G>T
ENST00000620463.1:c.2559+139G>T ENSP00000477719.1:n.2559+139G>T
NM_000089.3:c.2565+139G>T , LRG_2t1:c.2565+139G>T NP_000080.2:n.2565+139G>T
NM_000089.4:c.2565+139G>T MANE Select NP_000080.2:n.2565+139G>T
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