Canonical Allele Identifier: CA2277198125

Gene: TIMP2

Linked Data

• dbSNP Id: rs2069675918
• gnomAD v4: 17-78870832-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870833_78870834del , CM000679.2:g.78870833_78870834del	GRCh38
NC_000017.10:g.76866915_76866916del , CM000679.1:g.76866915_76866916del	GRCh37
NC_000017.9:g.74378510_74378511del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.109+64_109+65del	ENSP00000465968.2:n.109+64_109+65del
ENST00000706922.1:c.109+64_109+65del	ENSP00000516642.1:n.109+64_109+65del
ENST00000706923.1:c.109+64_109+65del	ENSP00000516643.1:n.109+64_109+65del
ENST00000262768.11:c.340+64_340+65del MANE Select	ENSP00000262768.6:n.340+64_340+65del
ENST00000536189.6:c.109+64_109+65del	ENSP00000441724.1:n.109+64_109+65del
ENST00000585421.5:c.109+64_109+65del	ENSP00000467584.1:n.109+64_109+65del
ENST00000586057.5:c.109+64_109+65del	ENSP00000468296.1:n.109+64_109+65del
ENST00000592761.2:c.109+64_109+65del	ENSP00000464930.1:n.109+64_109+65del
NM_003255.4:c.340+64_340+65del	NP_003246.1:n.340+64_340+65del
NM_003255.5:c.340+64_340+65del MANE Select	NP_003246.1:n.340+64_340+65del