Canonical Allele Identifier: CA9886483
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2888541
ClinVar RCV Id: RCV003724946
dbSNP Id: rs766452393
ExAC: 20:44639810 T / C
gnomAD v2: 20-44639810-T-C
gnomAD v3: 20-46011171-T-C
gnomAD v4: 20-46011171-T-C
MyVariant Identifiers: chr20:g.44639810T>C (hg19) chr20:g.46011171T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011171T>C , CM000682.2:g.46011171T>C GRCh38
NC_000020.10:g.44639810T>C , CM000682.1:g.44639810T>C GRCh37
NC_000020.9:g.44073217T>C NCBI36
NG_011468.1:g.7264T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.678T>C MANE Select ENSP00000361405.3:p.Asp226=
NM_004994.2:c.678T>C NP_004985.2:p.Asp226=
NM_004994.3:c.678T>C MANE Select NP_004985.2:p.Asp226=
Search 100 bp 5'
Search 100 bp 3'