Canonical Allele Identifier: CA401286714
Gene: TIMP2 HGNC NCBI
CEP295NL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78870919T>G , CM000679.2:g.78870919T>G GRCh38
NC_000017.10:g.76867001T>G , CM000679.1:g.76867001T>G GRCh37
NC_000017.9:g.74378596T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586713.6:c.88A>C (TIMP2) ENSP00000465968.2:p.Lys30Gln
ENST00000706922.1:c.88A>C (TIMP2) ENSP00000516642.1:p.Lys30Gln
ENST00000706923.1:c.88A>C (TIMP2) ENSP00000516643.1:p.Lys30Gln
ENST00000262768.11:c.319A>C (TIMP2) MANE Select ENSP00000262768.6:p.Lys107Gln
ENST00000536189.6:c.88A>C (TIMP2) ENSP00000441724.1:p.Lys30Gln
ENST00000585421.5:c.88A>C (TIMP2) ENSP00000467584.1:p.Lys30Gln
ENST00000586057.5:c.88A>C (TIMP2) ENSP00000468296.1:p.Lys30Gln
ENST00000586713.5:c.88A>C (CEP295NL) ENSP00000465968.1:p.Lys30Gln
ENST00000592761.2:c.88A>C (TIMP2) ENSP00000464930.1:p.Lys30Gln
NM_003255.4:c.319A>C (TIMP2) NP_003246.1:p.Lys107Gln
NM_003255.5:c.319A>C (TIMP2) MANE Select NP_003246.1:p.Lys107Gln