Canonical Allele Identifier: CA2277198191

Gene: TIMP2 CEP295NL

Linked Data

• dbSNP Id: rs2069678041

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870988_78870990del , CM000679.2:g.78870988_78870990del	GRCh38
NC_000017.10:g.76867070_76867072del , CM000679.1:g.76867070_76867072del	GRCh37
NC_000017.9:g.74378665_74378667del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.19_21del (TIMP2)	ENSP00000465968.2:p.Lys7del
ENST00000706922.1:c.19_21del (TIMP2)	ENSP00000516642.1:p.Lys7del
ENST00000706923.1:c.19_21del (TIMP2)	ENSP00000516643.1:p.Lys7del
ENST00000262768.11:c.250_252del (TIMP2) MANE Select	ENSP00000262768.6:p.Lys84del
ENST00000536189.6:c.19_21del (TIMP2)	ENSP00000441724.1:p.Lys7del
ENST00000585421.5:c.19_21del (TIMP2)	ENSP00000467584.1:p.Lys7del
ENST00000586057.5:c.19_21del (TIMP2)	ENSP00000468296.1:p.Lys7del
ENST00000586713.5:c.19_21del (CEP295NL)	ENSP00000465968.1:p.Lys7del
ENST00000592761.2:c.19_21del (TIMP2)	ENSP00000464930.1:p.Lys7del
NM_003255.4:c.250_252del (TIMP2)	NP_003246.1:p.Lys84del
NM_003255.5:c.250_252del (TIMP2) MANE Select	NP_003246.1:p.Lys84del