Canonical Allele Identifier: CA9886550
Gene: MMP9 HGNC NCBI

Linked Data

dbSNP Id: rs776166662
ExAC: 20:44640247 A / C
gnomAD v2: 20-44640247-A-C
gnomAD v4: 20-46011608-A-C
COSMIC: COSM5007835
MyVariant Identifiers: chr20:g.44640247A>C (hg19) chr20:g.44640247_44640248delinsCC (hg19) chr20:g.46011608A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011608A>C , CM000682.2:g.46011608A>C GRCh38
NC_000020.10:g.44640247A>C , CM000682.1:g.44640247A>C GRCh37
NC_000020.9:g.44073654A>C NCBI36
NG_011468.1:g.7701A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372330.3:c.858A>C MANE Select ENSP00000361405.3:p.Lys286Asn
NM_004994.2:c.858A>C NP_004985.2:p.Lys286Asn
NM_004994.3:c.858A>C MANE Select NP_004985.2:p.Lys286Asn
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