Canonical Allele Identifier: CA395936511

Gene: MMP2

Linked Data

• gnomAD v4: 16-55491812-T-C
• MyVariant Identifiers: chr16:g.55525724T>C (hg19) ; chr16:g.55491812T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55491812T>C , CM000678.2:g.55491812T>C	GRCh38
NC_000016.9:g.55525724T>C , CM000678.1:g.55525724T>C	GRCh37
NC_000016.8:g.54083225T>C	NCBI36
NG_008989.1:g.17644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.1192T>C MANE Select	ENSP00000219070.4:p.Phe398Leu
ENST00000219070.8:c.1192T>C	ENSP00000219070.4:p.Phe398Leu
ENST00000437642.6:c.1042T>C	ENSP00000394237.2:p.Phe348Leu
ENST00000543485.5:c.964T>C	ENSP00000444143.1:p.Phe322Leu
ENST00000570283.1:c.67T>C	ENSP00000456518.1:p.Phe23Leu
ENST00000570308.5:c.964T>C	ENSP00000461421.1:p.Phe322Leu
NM_001127891.2:c.1042T>C	NP_001121363.1:p.Phe348Leu
NM_001302508.1:c.964T>C	NP_001289437.1:p.Phe322Leu
NM_001302509.1:c.964T>C	NP_001289438.1:p.Phe322Leu
NM_001302510.1:c.964T>C	NP_001289439.1:p.Phe322Leu
NM_004530.5:c.1192T>C	NP_004521.1:p.Phe398Leu
NM_004530.6:c.1192T>C MANE Select	NP_004521.1:p.Phe398Leu
NM_001127891.3:c.1042T>C	NP_001121363.1:p.Phe348Leu
NM_001302509.2:c.964T>C	NP_001289438.1:p.Phe322Leu
NM_001302510.2:c.964T>C	NP_001289439.1:p.Phe322Leu