Canonical Allele Identifier: CA395936520

Gene: MMP2

Linked Data

• MyVariant Identifiers: chr16:g.55525727C>T (hg19) ; chr16:g.55491815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55491815C>T , CM000678.2:g.55491815C>T	GRCh38
NC_000016.9:g.55525727C>T , CM000678.1:g.55525727C>T	GRCh37
NC_000016.8:g.54083228C>T	NCBI36
NG_008989.1:g.17647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.1195C>T MANE Select	ENSP00000219070.4:p.Leu399Phe
ENST00000219070.8:c.1195C>T	ENSP00000219070.4:p.Leu399Phe
ENST00000437642.6:c.1045C>T	ENSP00000394237.2:p.Leu349Phe
ENST00000543485.5:c.967C>T	ENSP00000444143.1:p.Leu323Phe
ENST00000570283.1:c.70C>T	ENSP00000456518.1:p.Leu24Phe
ENST00000570308.5:c.967C>T	ENSP00000461421.1:p.Leu323Phe
NM_001127891.2:c.1045C>T	NP_001121363.1:p.Leu349Phe
NM_001302508.1:c.967C>T	NP_001289437.1:p.Leu323Phe
NM_001302509.1:c.967C>T	NP_001289438.1:p.Leu323Phe
NM_001302510.1:c.967C>T	NP_001289439.1:p.Leu323Phe
NM_004530.5:c.1195C>T	NP_004521.1:p.Leu399Phe
NM_004530.6:c.1195C>T MANE Select	NP_004521.1:p.Leu399Phe
NM_001127891.3:c.1045C>T	NP_001121363.1:p.Leu349Phe
NM_001302509.2:c.967C>T	NP_001289438.1:p.Leu323Phe
NM_001302510.2:c.967C>T	NP_001289439.1:p.Leu323Phe