Canonical Allele Identifier: CA395937528
Community Standard Title: NM_004530.6(MMP2):c.1567G>C (p.Val523Leu)
Gene: MMP2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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