Canonical Allele Identifier: CA576707137
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1480783741
gnomAD v2: 7-94052294-CT-C
MyVariant Identifiers: chr7:g.94052295del (hg19) chr7:g.94422983del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422983del , CM000669.2:g.94422983del GRCh38
NC_000007.13:g.94052295del , CM000669.1:g.94052295del GRCh37
NC_000007.12:g.93890231del NCBI36
NG_007405.1:g.33423del , LRG_2:g.33423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2430del MANE Select ENSP00000297268.6:p.Gly811ValfsTer24
ENST00000297268.10:c.2430del ENSP00000297268.6:p.Gly811ValfsTer24
ENST00000481570.5:n.513del
ENST00000497316.5:n.827del
ENST00000620463.1:c.2424del ENSP00000477719.1:p.Gly809ValfsTer24
NM_000089.3:c.2430del , LRG_2t1:c.2430del NP_000080.2:p.Gly811ValfsTer24
NM_000089.4:c.2430del MANE Select NP_000080.2:p.Gly811ValfsTer24
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