Canonical Allele Identifier: CA2640201848

Gene: TIMP2 CEP295NL

Linked Data

• gnomAD v4: 17-78871148-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78871148A>C , CM000679.2:g.78871148A>C	GRCh38
NC_000017.10:g.76867230A>C , CM000679.1:g.76867230A>C	GRCh37
NC_000017.9:g.74378825A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.1-142T>G (TIMP2)	ENSP00000465968.2:n.1-142T>G
ENST00000706922.1:c.1-142T>G (TIMP2)	ENSP00000516642.1:n.1-142T>G
ENST00000706923.1:c.1-142T>G (TIMP2)	ENSP00000516643.1:n.1-142T>G
ENST00000262768.11:c.232-142T>G (TIMP2) MANE Select	ENSP00000262768.6:n.232-142T>G
ENST00000536189.6:c.1-142T>G (TIMP2)	ENSP00000441724.1:n.1-142T>G
ENST00000585421.5:c.1-142T>G (TIMP2)	ENSP00000467584.1:n.1-142T>G
ENST00000586057.5:c.1-142T>G (TIMP2)	ENSP00000468296.1:n.1-142T>G
ENST00000586713.5:c.1-142T>G (CEP295NL)	ENSP00000465968.1:n.1-142T>G
ENST00000592761.2:c.1-142T>G (TIMP2)	ENSP00000464930.1:n.1-142T>G
NM_003255.4:c.232-142T>G (TIMP2)	NP_003246.1:n.232-142T>G
NM_003255.5:c.232-142T>G (TIMP2) MANE Select	NP_003246.1:n.232-142T>G