Canonical Allele Identifier: CA294435451

Gene: TIMP2 CEP295NL

Linked Data

• dbSNP Id: rs978934374
• gnomAD v3: 17-78871149-T-C
• gnomAD v4: 17-78871149-T-C
• MyVariant Identifiers: chr17:g.76867231T>C (hg19) ; chr17:g.78871149T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78871149T>C , CM000679.2:g.78871149T>C	GRCh38
NC_000017.10:g.76867231T>C , CM000679.1:g.76867231T>C	GRCh37
NC_000017.9:g.74378826T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.1-143A>G (TIMP2)	ENSP00000465968.2:n.1-143A>G
ENST00000706922.1:c.1-143A>G (TIMP2)	ENSP00000516642.1:n.1-143A>G
ENST00000706923.1:c.1-143A>G (TIMP2)	ENSP00000516643.1:n.1-143A>G
ENST00000262768.11:c.232-143A>G (TIMP2) MANE Select	ENSP00000262768.6:n.232-143A>G
ENST00000536189.6:c.1-143A>G (TIMP2)	ENSP00000441724.1:n.1-143A>G
ENST00000585421.5:c.1-143A>G (TIMP2)	ENSP00000467584.1:n.1-143A>G
ENST00000586057.5:c.1-143A>G (TIMP2)	ENSP00000468296.1:n.1-143A>G
ENST00000586713.5:c.1-143A>G (CEP295NL)	ENSP00000465968.1:n.1-143A>G
ENST00000592761.2:c.1-143A>G (TIMP2)	ENSP00000464930.1:n.1-143A>G
NM_003255.4:c.232-143A>G (TIMP2)	NP_003246.1:n.232-143A>G
NM_003255.5:c.232-143A>G (TIMP2) MANE Select	NP_003246.1:n.232-143A>G