Canonical Allele Identifier: CA401287029

Gene: TIMP2 CEP295NL

Linked Data

• dbSNP Id: rs2069677939
• gnomAD v4: 17-78870981-A-G
• MyVariant Identifiers: chr17:g.76867063A>G (hg19) ; chr17:g.78870981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870981A>G , CM000679.2:g.78870981A>G	GRCh38
NC_000017.10:g.76867063A>G , CM000679.1:g.76867063A>G	GRCh37
NC_000017.9:g.74378658A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.26T>C (TIMP2)	ENSP00000465968.2:p.Ile9Thr
ENST00000706922.1:c.26T>C (TIMP2)	ENSP00000516642.1:p.Ile9Thr
ENST00000706923.1:c.26T>C (TIMP2)	ENSP00000516643.1:p.Ile9Thr
ENST00000262768.11:c.257T>C (TIMP2) MANE Select	ENSP00000262768.6:p.Ile86Thr
ENST00000536189.6:c.26T>C (TIMP2)	ENSP00000441724.1:p.Ile9Thr
ENST00000585421.5:c.26T>C (TIMP2)	ENSP00000467584.1:p.Ile9Thr
ENST00000586057.5:c.26T>C (TIMP2)	ENSP00000468296.1:p.Ile9Thr
ENST00000586713.5:c.26T>C (CEP295NL)	ENSP00000465968.1:p.Ile9Thr
ENST00000592761.2:c.26T>C (TIMP2)	ENSP00000464930.1:p.Ile9Thr
NM_003255.4:c.257T>C (TIMP2)	NP_003246.1:p.Ile86Thr
NM_003255.5:c.257T>C (TIMP2) MANE Select	NP_003246.1:p.Ile86Thr