Canonical Allele Identifier: CA2715123525
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs2115940336
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422818_94422819del , CM000669.2:g.94422818_94422819del GRCh38
NC_000007.13:g.94052130_94052131del , CM000669.1:g.94052130_94052131del GRCh37
NC_000007.12:g.93890066_93890067del NCBI36
NG_007405.1:g.33258_33259del , LRG_2:g.33258_33259del

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2404-139_2404-138del MANE Select ENSP00000297268.6:n.2404-139_2404-138del
ENST00000297268.10:c.2404-139_2404-138del ENSP00000297268.6:n.2404-139_2404-138del
ENST00000481570.5:n.348_349del
ENST00000497316.5:n.801-139_801-138del
ENST00000620463.1:c.2398-139_2398-138del ENSP00000477719.1:n.2398-139_2398-138del
NM_000089.3:c.2404-139_2404-138del , LRG_2t1:c.2404-139_2404-138del NP_000080.2:n.2404-139_2404-138del
NM_000089.4:c.2404-139_2404-138del MANE Select NP_000080.2:n.2404-139_2404-138del
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