Canonical Allele Identifier: CA2640201481

Gene: TIMP2

Linked Data

• gnomAD v4: 17-78870759-GGGCTCCGTACCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870761_78870773del , CM000679.2:g.78870761_78870773del	GRCh38
NC_000017.10:g.76866843_76866855del , CM000679.1:g.76866843_76866855del	GRCh37
NC_000017.9:g.74378438_74378450del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.109+126_109+138del	ENSP00000465968.2:n.109+126_109+138del
ENST00000706922.1:c.109+126_109+138del	ENSP00000516642.1:n.109+126_109+138del
ENST00000706923.1:c.109+126_109+138del	ENSP00000516643.1:n.109+126_109+138del
ENST00000262768.11:c.340+126_340+138del MANE Select	ENSP00000262768.6:n.340+126_340+138del
ENST00000536189.6:c.109+126_109+138del	ENSP00000441724.1:n.109+126_109+138del
ENST00000585421.5:c.109+126_109+138del	ENSP00000467584.1:n.109+126_109+138del
ENST00000586057.5:c.109+126_109+138del	ENSP00000468296.1:n.109+126_109+138del
ENST00000592761.2:c.109+126_109+138del	ENSP00000464930.1:n.109+126_109+138del
NM_003255.4:c.340+126_340+138del	NP_003246.1:n.340+126_340+138del
NM_003255.5:c.340+126_340+138del MANE Select	NP_003246.1:n.340+126_340+138del