Canonical Allele Identifier: CA8060494

Gene: MMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55497020G>T , CM000678.2:g.55497020G>T	GRCh38
NC_000016.9:g.55530932G>T , CM000678.1:g.55530932G>T	GRCh37
NC_000016.8:g.54088433G>T	NCBI36
NG_008989.1:g.22852G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004530.6:c.1567G>T MANE Select	NP_004521.1:p.Val523Leu
ENST00000219070.9:c.1567G>T MANE Select	ENSP00000219070.4:p.Val523Leu
NM_001127891.2:c.1417G>T	NP_001121363.1:p.Val473Leu
NM_001127891.3:c.1417G>T	NP_001121363.1:p.Val473Leu
NM_001302508.1:c.1339G>T	NP_001289437.1:p.Val447Leu
NM_001302509.1:c.1339G>T	NP_001289438.1:p.Val447Leu
NM_001302509.2:c.1339G>T	NP_001289438.1:p.Val447Leu
NM_001302510.1:c.1339G>T	NP_001289439.1:p.Val447Leu
NM_001302510.2:c.1339G>T	NP_001289439.1:p.Val447Leu
NM_004530.5:c.1567G>T	NP_004521.1:p.Val523Leu
ENST00000219070.8:c.1567G>T	ENSP00000219070.4:p.Val523Leu
ENST00000437642.6:c.1417G>T	ENSP00000394237.2:p.Val473Leu
ENST00000543485.5:c.1339G>T	ENSP00000444143.1:p.Val447Leu
ENST00000570283.1:c.442G>T	ENSP00000456518.1:p.Val148Leu
ENST00000570308.5:c.1339G>T	ENSP00000461421.1:p.Val447Leu