Canonical Allele Identifier: CA1104605122
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791752700
gnomAD v3: 7-94404478-A-ACAATG
gnomAD v4: 7-94404478-A-ACAATG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404478_94404479insCAATG , CM000669.2:g.94404478_94404479insCAATG GRCh38
NC_000007.13:g.94033790_94033791insCAATG , CM000669.1:g.94033790_94033791insCAATG GRCh37
NC_000007.12:g.93871726_93871727insCAATG NCBI36
NG_007405.1:g.14918_14919insCAATG , LRG_2:g.14918_14919insCAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-78_280-77insCAATG MANE Select ENSP00000297268.6:n.280-78_280-77insCAATG
ENST00000297268.10:c.280-78_280-77insCAATG ENSP00000297268.6:n.280-78_280-77insCAATG
ENST00000620463.1:c.274-78_274-77insCAATG ENSP00000477719.1:n.274-78_274-77insCAATG
NM_000089.3:c.280-78_280-77insCAATG , LRG_2t1:c.280-78_280-77insCAATG NP_000080.2:n.280-78_280-77insCAATG
NM_000089.4:c.280-78_280-77insCAATG MANE Select NP_000080.2:n.280-78_280-77insCAATG
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Search 100 bp 3'