Canonical Allele Identifier: CA2733954234

Gene: TIMP2 CEP295NL

Linked Data

• dbSNP Id: rs1304896506

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78871157G>A , CM000679.2:g.78871157G>A	GRCh38
NC_000017.10:g.76867239G>A , CM000679.1:g.76867239G>A	GRCh37
NC_000017.9:g.74378834G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.1-151C>T (TIMP2)	ENSP00000465968.2:n.1-151C>T
ENST00000706922.1:c.1-151C>T (TIMP2)	ENSP00000516642.1:n.1-151C>T
ENST00000706923.1:c.1-151C>T (TIMP2)	ENSP00000516643.1:n.1-151C>T
ENST00000262768.11:c.232-151C>T (TIMP2) MANE Select	ENSP00000262768.6:n.232-151C>T
ENST00000536189.6:c.1-151C>T (TIMP2)	ENSP00000441724.1:n.1-151C>T
ENST00000585421.5:c.1-151C>T (TIMP2)	ENSP00000467584.1:n.1-151C>T
ENST00000586057.5:c.1-151C>T (TIMP2)	ENSP00000468296.1:n.1-151C>T
ENST00000586713.5:c.1-151C>T (CEP295NL)	ENSP00000465968.1:n.1-151C>T
ENST00000592761.2:c.1-151C>T (TIMP2)	ENSP00000464930.1:n.1-151C>T
NM_003255.4:c.232-151C>T (TIMP2)	NP_003246.1:n.232-151C>T
NM_003255.5:c.232-151C>T (TIMP2) MANE Select	NP_003246.1:n.232-151C>T