Canonical Allele Identifier: CA8060582
Gene: MMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55502788G>A
GRCh37 chr16:g.55536700G>A
gnomAD v2:
16:55536700 G / A
gnomAD v3:
16:55502788 G / A
gnomAD v4:
chr16-55502788-G-A
Joint Max Group AF 0.00102641 (EAS)
Genomes Max Group AF 0.00134152 (EAS)
Exomes Max Group AF 0.00089199 (EAS)
ClinVar RCV:
RCV000273658
RCV002521051
ClinVar Variation:
319767
dbSNP:
202060835
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55502788G>A , CM000678.2:g.55502788G>A GRCh38
NC_000016.9:g.55536700G>A , CM000678.1:g.55536700G>A GRCh37
NC_000016.8:g.54094201G>A NCBI36
NG_008989.1:g.28620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.1779G>A MANE Select ENSP00000219070.4:p.Glu593=
ENST00000219070.8:c.1779G>A ENSP00000219070.4:p.Glu593=
ENST00000437642.6:c.1629G>A ENSP00000394237.2:p.Glu543=
ENST00000543485.5:c.1551G>A ENSP00000444143.1:p.Glu517=
ENST00000570283.1:c.654G>A ENSP00000456518.1:p.Glu218=
ENST00000570308.5:c.1551G>A ENSP00000461421.1:p.Glu517=
NM_001127891.2:c.1629G>A NP_001121363.1:p.Glu543=
NM_001302508.1:c.1551G>A NP_001289437.1:p.Glu517=
NM_001302509.1:c.1551G>A NP_001289438.1:p.Glu517=
NM_001302510.1:c.1551G>A NP_001289439.1:p.Glu517=
NM_004530.5:c.1779G>A NP_004521.1:p.Glu593=
NM_004530.6:c.1779G>A MANE Select NP_004521.1:p.Glu593=
NM_001127891.3:c.1629G>A NP_001121363.1:p.Glu543=
NM_001302509.2:c.1551G>A NP_001289438.1:p.Glu517=
NM_001302510.2:c.1551G>A NP_001289439.1:p.Glu517=
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