Canonical Allele Identifier: CA2277198983

Gene: TIMP2 CEP295NL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78872532A= , CM000679.2:g.78872532A=	GRCh38
NC_000017.10:g.76868614A= , CM000679.1:g.76868614A=	GRCh37
NC_000017.9:g.74380209A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003255.5:c.231+1287T= (TIMP2) MANE Select	NP_003246.1:n.231+1287T=
ENST00000262768.11:c.231+1287T= (TIMP2) MANE Select	ENSP00000262768.6:n.231+1287T=
NM_003255.4:c.231+1287T= (TIMP2)	NP_003246.1:n.231+1287T=
ENST00000536189.6:c.-1+1287T= (TIMP2)	ENSP00000441724.1:n.-1+1287T=
ENST00000585421.5:c.-1+1287T= (TIMP2)	ENSP00000467584.1:n.-1+1287T=
ENST00000586057.5:c.-1+1287T= (TIMP2)	ENSP00000468296.1:n.-1+1287T=
ENST00000586713.5:c.-1+1287T= (CEP295NL)	ENSP00000465968.1:n.-1+1287T=
ENST00000586713.6:c.-1+1287T= (TIMP2)	ENSP00000465968.2:n.-1+1287T=
ENST00000592761.2:c.-1+1287T= (TIMP2)	ENSP00000464930.1:n.-1+1287T=
ENST00000706922.1:c.-1+1287T= (TIMP2)	ENSP00000516642.1:n.-1+1287T=
ENST00000706923.1:c.-1+1287T= (TIMP2)	ENSP00000516643.1:n.-1+1287T=