Canonical Allele Identifier: CA627668796

Gene: TIMP2

Linked Data

• dbSNP Id: rs1371578448
• gnomAD v2: 17-76866811-C-CTAGCATTCTCTGACGGGAAGTGGCCGAGAGGG
• MyVariant Identifiers: chr17:g.76866811_76866812insTAGCATTCTCTGACGGGAAGTGGCCGAGAGGG (hg19) ; chr17:g.78870729_78870730insTAGCATTCTCTGACGGGAAGTGGCCGAGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870730_78870761dup , CM000679.2:g.78870730_78870761dup	GRCh38
NC_000017.10:g.76866812_76866843dup , CM000679.1:g.76866812_76866843dup	GRCh37
NC_000017.9:g.74378407_74378438dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.109+137_109+168dup	ENSP00000465968.2:n.109+137_109+168dup
ENST00000706922.1:c.109+137_109+168dup	ENSP00000516642.1:n.109+137_109+168dup
ENST00000706923.1:c.109+137_109+168dup	ENSP00000516643.1:n.109+137_109+168dup
ENST00000262768.11:c.340+137_340+168dup MANE Select	ENSP00000262768.6:n.340+137_340+168dup
ENST00000536189.6:c.109+137_109+168dup	ENSP00000441724.1:n.109+137_109+168dup
ENST00000585421.5:c.109+137_109+168dup	ENSP00000467584.1:n.109+137_109+168dup
ENST00000586057.5:c.109+137_109+168dup	ENSP00000468296.1:n.109+137_109+168dup
ENST00000592761.2:c.109+137_109+168dup	ENSP00000464930.1:n.109+137_109+168dup
NM_003255.4:c.340+137_340+168dup	NP_003246.1:n.340+137_340+168dup
NM_003255.5:c.340+137_340+168dup MANE Select	NP_003246.1:n.340+137_340+168dup