Canonical Allele Identifier: CA916083493

Gene: MMP2

Linked Data

• ClinVar Variation Id: 859272
• ClinVar RCV Id: RCV001065341

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55481417_55483075del , CM000678.2:g.55481417_55483075del	GRCh38
NC_000016.9:g.55515329_55516987del , CM000678.1:g.55515329_55516987del	GRCh37
NC_000016.8:g.54072830_54074488del	NCBI36
NG_008989.1:g.7249_8907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.154-1492_320del
ENST00000219070.8:c.154-1492_320del
ENST00000543485.5:c.-76+820_92del
ENST00000564864.5:c.-76+1362_92del
ENST00000568715.5:c.-75-1492_92del
ENST00000570308.5:c.-75-1492_92del
NM_001302508.1:c.-75-1492_92del
NM_001302509.1:c.-76+820_92del
NM_001302510.1:c.-76+1362_92del
NM_004530.5:c.154-1492_320del
NM_004530.6:c.154-1492_320del
NM_001302509.2:c.-76+820_92del
NM_001302510.2:c.-76+1362_92del