Canonical Allele Identifier: CA9886484
Gene: MMP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164220
ClinVar RCV Id: RCV003082043 RCV004073100
dbSNP Id: rs750969696
ExAC: 20:44639812 G / A
gnomAD v2: 20-44639812-G-A
gnomAD v3: 20-46011173-G-A
gnomAD v4: 20-46011173-G-A
MyVariant Identifiers: chr20:g.44639812G>A (hg19) chr20:g.46011173G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46011173G>A , CM000682.2:g.46011173G>A GRCh38
NC_000020.10:g.44639812G>A , CM000682.1:g.44639812G>A GRCh37
NC_000020.9:g.44073219G>A NCBI36
NG_011468.1:g.7266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372330.3:c.680G>A MANE Select ENSP00000361405.3:p.Gly227Asp
NM_004994.2:c.680G>A NP_004985.2:p.Gly227Asp
NM_004994.3:c.680G>A MANE Select NP_004985.2:p.Gly227Asp
Search 100 bp 5'
Search 100 bp 3'