Canonical Allele Identifier: CA8060040

Gene: MMP2

Linked Data

• dbSNP Id: rs753129923
• ExAC: 16:55516960 G / A
• gnomAD v2: 16-55516960-G-A
• gnomAD v3: 16-55483048-G-A
• gnomAD v4: 16-55483048-G-A
• MyVariant Identifiers: chr16:g.55516960G>A (hg19) ; chr16:g.55483048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55483048G>A , CM000678.2:g.55483048G>A	GRCh38
NC_000016.9:g.55516960G>A , CM000678.1:g.55516960G>A	GRCh37
NC_000016.8:g.54074461G>A	NCBI36
NG_008989.1:g.8880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.293G>A MANE Select	ENSP00000219070.4:p.Arg98Gln
ENST00000219070.8:c.293G>A	ENSP00000219070.4:p.Arg98Gln
ENST00000437642.6:c.143G>A	ENSP00000394237.2:p.Arg48Gln
ENST00000543485.5:c.65G>A	ENSP00000444143.1:p.Arg22Gln
ENST00000564864.5:c.65G>A	ENSP00000456096.1:p.Arg22Gln
ENST00000568715.5:c.65G>A	ENSP00000457949.1:p.Arg22Gln
ENST00000570308.5:c.65G>A	ENSP00000461421.1:p.Arg22Gln
NM_001127891.2:c.143G>A	NP_001121363.1:p.Arg48Gln
NM_001302508.1:c.65G>A	NP_001289437.1:p.Arg22Gln
NM_001302509.1:c.65G>A	NP_001289438.1:p.Arg22Gln
NM_001302510.1:c.65G>A	NP_001289439.1:p.Arg22Gln
NM_004530.5:c.293G>A	NP_004521.1:p.Arg98Gln
NM_004530.6:c.293G>A MANE Select	NP_004521.1:p.Arg98Gln
NM_001127891.3:c.143G>A	NP_001121363.1:p.Arg48Gln
NM_001302509.2:c.65G>A	NP_001289438.1:p.Arg22Gln
NM_001302510.2:c.65G>A	NP_001289439.1:p.Arg22Gln