Canonical Allele Identifier: CA294733326
Gene: TIMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78925357G>T
GRCh37 chr17:g.76921439G>T
gnomAD v2:
17:76921439 G / T
gnomAD v3:
17:78925357 G / T
gnomAD v4:
chr17-78925357-G-T
Joint Max Group AF 0.15573673 (EAS)
Genomes Max Group AF 0.15573673 (EAS)
Exomes Max Group AF 0.06765989 (SAS)
dbSNP:
7503607
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78925357G>T , CM000679.2:g.78925357G>T GRCh38
NC_000017.10:g.76921439G>T , CM000679.1:g.76921439G>T GRCh37
NC_000017.9:g.74433034G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262768.11:c.-269C>A MANE Select ENSP00000262768.6:n.-269C>A
NM_003255.4:c.-269C>A NP_003246.1:n.-269C>A
NM_003255.5:c.-269C>A MANE Select NP_003246.1:n.-269C>A
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