Canonical Allele Identifier: CA401286748

Gene: TIMP2 CEP295NL

Linked Data

• gnomAD v4: 17-78870927-A-T
• MyVariant Identifiers: chr17:g.76867009A>T (hg19) ; chr17:g.78870927A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870927A>T , CM000679.2:g.78870927A>T	GRCh38
NC_000017.10:g.76867009A>T , CM000679.1:g.76867009A>T	GRCh37
NC_000017.9:g.74378604A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586713.6:c.80T>A (TIMP2)	ENSP00000465968.2:p.Val27Asp
ENST00000706922.1:c.80T>A (TIMP2)	ENSP00000516642.1:p.Val27Asp
ENST00000706923.1:c.80T>A (TIMP2)	ENSP00000516643.1:p.Val27Asp
ENST00000262768.11:c.311T>A (TIMP2) MANE Select	ENSP00000262768.6:p.Val104Asp
ENST00000536189.6:c.80T>A (TIMP2)	ENSP00000441724.1:p.Val27Asp
ENST00000585421.5:c.80T>A (TIMP2)	ENSP00000467584.1:p.Val27Asp
ENST00000586057.5:c.80T>A (TIMP2)	ENSP00000468296.1:p.Val27Asp
ENST00000586713.5:c.80T>A (CEP295NL)	ENSP00000465968.1:p.Val27Asp
ENST00000592761.2:c.80T>A (TIMP2)	ENSP00000464930.1:p.Val27Asp
NM_003255.4:c.311T>A (TIMP2)	NP_003246.1:p.Val104Asp
NM_003255.5:c.311T>A (TIMP2) MANE Select	NP_003246.1:p.Val104Asp