Canonical Allele Identifier: CA2640201673
Gene: TIMP2 HGNC NCBI

Linked Data

gnomAD v4: 17-78870845-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78870845G>T , CM000679.2:g.78870845G>T GRCh38
NC_000017.10:g.76866927G>T , CM000679.1:g.76866927G>T GRCh37
NC_000017.9:g.74378522G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000586713.6:c.109+53C>A ENSP00000465968.2:n.109+53C>A
ENST00000706922.1:c.109+53C>A ENSP00000516642.1:n.109+53C>A
ENST00000706923.1:c.109+53C>A ENSP00000516643.1:n.109+53C>A
ENST00000262768.11:c.340+53C>A MANE Select ENSP00000262768.6:n.340+53C>A
ENST00000536189.6:c.109+53C>A ENSP00000441724.1:n.109+53C>A
ENST00000585421.5:c.109+53C>A ENSP00000467584.1:n.109+53C>A
ENST00000586057.5:c.109+53C>A ENSP00000468296.1:n.109+53C>A
ENST00000592761.2:c.109+53C>A ENSP00000464930.1:n.109+53C>A
NM_003255.4:c.340+53C>A NP_003246.1:n.340+53C>A
NM_003255.5:c.340+53C>A MANE Select NP_003246.1:n.340+53C>A
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