Canonical Allele Identifier: CA16546724
Gene: TIMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78925349T>C
GRCh37 chr17:g.76921431T>C
gnomAD v2:
17:76921431 T / C
gnomAD v3:
17:78925349 T / C
gnomAD v4:
chr17-78925349-T-C
Joint Max Group AF 0.70818482 (AFR)
Genomes Max Group AF 0.70818482 (AFR)
Exomes Max Group AF 0.5415444 (SAS)
dbSNP:
7503726
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78925349T>C , CM000679.2:g.78925349T>C GRCh38
NC_000017.10:g.76921431T>C , CM000679.1:g.76921431T>C GRCh37
NC_000017.9:g.74433026T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262768.11:c.-261A>G MANE Select ENSP00000262768.6:n.-261A>G
NM_003255.4:c.-261A>G NP_003246.1:n.-261A>G
NM_003255.5:c.-261A>G MANE Select NP_003246.1:n.-261A>G
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