Canonical Allele Identifier: CA8060144

Gene: MMP2

Linked Data

• ClinVar Variation Id: 319748
• ClinVar RCV Id: RCV000327169 ; RCV000892676
• dbSNP Id: rs201653184
• ExAC: 16:55519349 G / A
• gnomAD v2: 16-55519349-G-A
• gnomAD v3: 16-55485437-G-A
• gnomAD v4: 16-55485437-G-A
• MyVariant Identifiers: chr16:g.55519349G>A (hg19) ; chr16:g.55485437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55485437G>A , CM000678.2:g.55485437G>A	GRCh38
NC_000016.9:g.55519349G>A , CM000678.1:g.55519349G>A	GRCh37
NC_000016.8:g.54076850G>A	NCBI36
NG_008989.1:g.11269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.658+10G>A MANE Select	ENSP00000219070.4:n.658+10G>A
ENST00000219070.8:c.658+10G>A	ENSP00000219070.4:n.658+10G>A
ENST00000437642.6:c.508+10G>A	ENSP00000394237.2:n.508+10G>A
ENST00000543485.5:c.430+10G>A	ENSP00000444143.1:n.430+10G>A
ENST00000564864.5:c.430+10G>A	ENSP00000456096.1:n.430+10G>A
ENST00000570308.5:c.430+10G>A	ENSP00000461421.1:n.430+10G>A
NM_001127891.2:c.508+10G>A	NP_001121363.1:n.508+10G>A
NM_001302508.1:c.430+10G>A	NP_001289437.1:n.430+10G>A
NM_001302509.1:c.430+10G>A	NP_001289438.1:n.430+10G>A
NM_001302510.1:c.430+10G>A	NP_001289439.1:n.430+10G>A
NM_004530.5:c.658+10G>A	NP_004521.1:n.658+10G>A
NM_004530.6:c.658+10G>A MANE Select	NP_004521.1:n.658+10G>A
NM_001127891.3:c.508+10G>A	NP_001121363.1:n.508+10G>A
NM_001302509.2:c.430+10G>A	NP_001289438.1:n.430+10G>A
NM_001302510.2:c.430+10G>A	NP_001289439.1:n.430+10G>A