Canonical Allele Identifier: CA8060052

Gene: MMP2

Linked Data

• ClinVar Variation Id: 885136
• ClinVar RCV Id: RCV001116556
• dbSNP Id: rs112710941
• ExAC: 16:55517011 G / T
• gnomAD v2: 16-55517011-G-T
• gnomAD v3: 16-55483099-G-T
• gnomAD v4: 16-55483099-G-T
• MyVariant Identifiers: chr16:g.55517011G>T (hg19) ; chr16:g.55483099G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55483099G>T , CM000678.2:g.55483099G>T	GRCh38
NC_000016.9:g.55517011G>T , CM000678.1:g.55517011G>T	GRCh37
NC_000016.8:g.54074512G>T	NCBI36
NG_008989.1:g.8931G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.344G>T MANE Select	ENSP00000219070.4:p.Arg115Leu
ENST00000219070.8:c.344G>T	ENSP00000219070.4:p.Arg115Leu
ENST00000437642.6:c.194G>T	ENSP00000394237.2:p.Arg65Leu
ENST00000543485.5:c.116G>T	ENSP00000444143.1:p.Arg39Leu
ENST00000564864.5:c.116G>T	ENSP00000456096.1:p.Arg39Leu
ENST00000568715.5:c.116G>T	ENSP00000457949.1:p.Arg39Leu
ENST00000570308.5:c.116G>T	ENSP00000461421.1:p.Arg39Leu
NM_001127891.2:c.194G>T	NP_001121363.1:p.Arg65Leu
NM_001302508.1:c.116G>T	NP_001289437.1:p.Arg39Leu
NM_001302509.1:c.116G>T	NP_001289438.1:p.Arg39Leu
NM_001302510.1:c.116G>T	NP_001289439.1:p.Arg39Leu
NM_004530.5:c.344G>T	NP_004521.1:p.Arg115Leu
NM_004530.6:c.344G>T MANE Select	NP_004521.1:p.Arg115Leu
NM_001127891.3:c.194G>T	NP_001121363.1:p.Arg65Leu
NM_001302509.2:c.116G>T	NP_001289438.1:p.Arg39Leu
NM_001302510.2:c.116G>T	NP_001289439.1:p.Arg39Leu