Canonical Allele Identifier: CA239856

Gene: MMP2

Linked Data

• ClinVar Variation Id: 194059
• ClinVar RCV Id: RCV000174335 ; RCV000277336
• dbSNP Id: rs41459945
• ExAC: 16:55536779 G / A
• gnomAD v2: 16-55536779-G-A
• gnomAD v3: 16-55502867-G-A
• gnomAD v4: 16-55502867-G-A
• MyVariant Identifiers: chr16:g.55536779G>A (hg19) ; chr16:g.55502867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55502867G>A , CM000678.2:g.55502867G>A	GRCh38
NC_000016.9:g.55536779G>A , CM000678.1:g.55536779G>A	GRCh37
NC_000016.8:g.54094280G>A	NCBI36
NG_008989.1:g.28699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.1858G>A MANE Select	ENSP00000219070.4:p.Val620Ile
ENST00000219070.8:c.1858G>A	ENSP00000219070.4:p.Val620Ile
ENST00000437642.6:c.1708G>A	ENSP00000394237.2:p.Val570Ile
ENST00000543485.5:c.1630G>A	ENSP00000444143.1:p.Val544Ile
ENST00000570283.1:c.733G>A	ENSP00000456518.1:p.Val245Ile
ENST00000570308.5:c.1630G>A	ENSP00000461421.1:p.Val544Ile
NM_001127891.2:c.1708G>A	NP_001121363.1:p.Val570Ile
NM_001302508.1:c.1630G>A	NP_001289437.1:p.Val544Ile
NM_001302509.1:c.1630G>A	NP_001289438.1:p.Val544Ile
NM_001302510.1:c.1630G>A	NP_001289439.1:p.Val544Ile
NM_004530.5:c.1858G>A	NP_004521.1:p.Val620Ile
NM_004530.6:c.1858G>A MANE Select	NP_004521.1:p.Val620Ile
NM_001127891.3:c.1708G>A	NP_001121363.1:p.Val570Ile
NM_001302509.2:c.1630G>A	NP_001289438.1:p.Val544Ile
NM_001302510.2:c.1630G>A	NP_001289439.1:p.Val544Ile