Canonical Allele Identifier: CA14412881
Gene: TIMP2 HGNC NCBI
CEP295NL HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

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

Transcript Alleles

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