Canonical Allele Identifier: CA576707148
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1465616240
gnomAD v2: 7-94052550-CA-C
gnomAD v3: 7-94423238-CA-C
gnomAD v4: 7-94423238-CA-C
MyVariant Identifiers: chr7:g.94052551del (hg19) chr7:g.94423239del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423239del , CM000669.2:g.94423239del GRCh38
NC_000007.13:g.94052551del , CM000669.1:g.94052551del GRCh37
NC_000007.12:g.93890487del NCBI36
NG_007405.1:g.33679del , LRG_2:g.33679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+121del MANE Select ENSP00000297268.6:n.2565+121del
ENST00000297268.10:c.2565+121del ENSP00000297268.6:n.2565+121del
ENST00000481570.5:n.769del
ENST00000620463.1:c.2559+121del ENSP00000477719.1:n.2559+121del
NM_000089.3:c.2565+121del , LRG_2t1:c.2565+121del NP_000080.2:n.2565+121del
NM_000089.4:c.2565+121del MANE Select NP_000080.2:n.2565+121del
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