Canonical Allele Identifier: CA8060103
Community Standard Title: NM_004530.6(MMP2):c.496G>A (p.Glu166Lys)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55484131G>A , CM000678.2:g.55484131G>A GRCh38
NC_000016.9:g.55518043G>A , CM000678.1:g.55518043G>A GRCh37
NC_000016.8:g.54075544G>A NCBI36
NG_008989.1:g.9963G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.496G>A MANE Select NP_004521.1:p.Glu166Lys
ENST00000219070.9:c.496G>A MANE Select ENSP00000219070.4:p.Glu166Lys
NM_001127891.2:c.346G>A NP_001121363.1:p.Glu116Lys
NM_001127891.3:c.346G>A NP_001121363.1:p.Glu116Lys
NM_001302508.1:c.268G>A NP_001289437.1:p.Glu90Lys
NM_001302509.1:c.268G>A NP_001289438.1:p.Glu90Lys
NM_001302509.2:c.268G>A NP_001289438.1:p.Glu90Lys
NM_001302510.1:c.268G>A NP_001289439.1:p.Glu90Lys
NM_001302510.2:c.268G>A NP_001289439.1:p.Glu90Lys
NM_004530.5:c.496G>A NP_004521.1:p.Glu166Lys
ENST00000219070.8:c.496G>A ENSP00000219070.4:p.Glu166Lys
ENST00000437642.6:c.346G>A ENSP00000394237.2:p.Glu116Lys
ENST00000543485.5:c.268G>A ENSP00000444143.1:p.Glu90Lys
ENST00000564864.5:c.268G>A ENSP00000456096.1:p.Glu90Lys
ENST00000568715.5:c.268G>A ENSP00000457949.1:p.Glu90Lys
ENST00000570308.5:c.268G>A ENSP00000461421.1:p.Glu90Lys