Canonical Allele Identifier: CA2277203726
Community Standard Title: NM_003255.5(TIMP2):c.131-8628C=
Gene: TIMP2 HGNC NCBI
CEP295NL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78882547G= , CM000679.2:g.78882547G= GRCh38
NC_000017.10:g.76878629G= , CM000679.1:g.76878629G= GRCh37
NC_000017.9:g.74390224G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003255.5:c.131-8628C= (TIMP2) MANE Select NP_003246.1:n.131-8628C=
ENST00000262768.11:c.131-8628C= (TIMP2) MANE Select ENSP00000262768.6:n.131-8628C=
NM_003255.4:c.131-8628C= (TIMP2) NP_003246.1:n.131-8628C=
ENST00000536189.6:c.-101-8628C= (TIMP2) ENSP00000441724.1:n.-101-8628C=
ENST00000586713.5:c.-101-8628C= (CEP295NL) ENSP00000465968.1:n.-101-8628C=
ENST00000586713.6:c.-101-8628C= (TIMP2) ENSP00000465968.2:n.-101-8628C=