Canonical Allele Identifier: CA1104598061
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1211431735
gnomAD v3: 7-94423257-G-C
gnomAD v4: 7-94423257-G-C
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Genomic Alleles

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

Transcript Alleles

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