Canonical Allele Identifier: CA201631
Gene: MMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195227
ClinVar RCV Id: RCV000175786
dbSNP Id: rs794727275
MyVariant Identifiers: chr16:g.55516932del (hg19) chr16:g.55483020del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55483020del , CM000678.2:g.55483020del GRCh38
NC_000016.9:g.55516932del , CM000678.1:g.55516932del GRCh37
NC_000016.8:g.54074433del NCBI36
NG_008989.1:g.8852del

Transcript Alleles

HGVS Amino-acid change
ENST00000219070.9:c.265del MANE Select ENSP00000219070.4:p.Asp90ThrfsTer?
ENST00000219070.8:c.265del ENSP00000219070.4:p.Asp90ThrfsTer?
ENST00000437642.6:c.115del ENSP00000394237.2:p.Asp40ThrfsTer?
ENST00000543485.5:c.37del ENSP00000444143.1:p.Asp14ThrfsTer?
ENST00000564864.5:c.37del ENSP00000456096.1:p.Asp14ThrfsTer?
ENST00000568715.5:c.37del ENSP00000457949.1:p.Asp14ThrfsTer?
ENST00000570308.5:c.37del ENSP00000461421.1:p.Asp14ThrfsTer?
NM_001127891.2:c.115del NP_001121363.1:p.Asp40ThrfsTer?
NM_001302508.1:c.37del NP_001289437.1:p.Asp14ThrfsTer?
NM_001302509.1:c.37del NP_001289438.1:p.Asp14ThrfsTer?
NM_001302510.1:c.37del NP_001289439.1:p.Asp14ThrfsTer?
NM_004530.5:c.265del NP_004521.1:p.Asp90ThrfsTer?
NM_004530.6:c.265del MANE Select NP_004521.1:p.Asp90ThrfsTer?
NM_001127891.3:c.115del NP_001121363.1:p.Asp40ThrfsTer?
NM_001302509.2:c.37del NP_001289438.1:p.Asp14ThrfsTer?
NM_001302510.2:c.37del NP_001289439.1:p.Asp14ThrfsTer?
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