Canonical Allele Identifier: CA2223713693
Community Standard Title: NM_004530.6(MMP2):c.1149T= (p.Asp383=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55489793T= , CM000678.2:g.55489793T= GRCh38
NC_000016.9:g.55523705T= , CM000678.1:g.55523705T= GRCh37
NC_000016.8:g.54081206T= NCBI36
NG_008989.1:g.15625T=

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.1149T= MANE Select NP_004521.1:p.Asp383=
ENST00000219070.9:c.1149T= MANE Select ENSP00000219070.4:p.Asp383=
NM_001127891.2:c.999T= NP_001121363.1:p.Asp333=
NM_001127891.3:c.999T= NP_001121363.1:p.Asp333=
NM_001302508.1:c.921T= NP_001289437.1:p.Asp307=
NM_001302509.1:c.921T= NP_001289438.1:p.Asp307=
NM_001302509.2:c.921T= NP_001289438.1:p.Asp307=
NM_001302510.1:c.921T= NP_001289439.1:p.Asp307=
NM_001302510.2:c.921T= NP_001289439.1:p.Asp307=
NM_004530.5:c.1149T= NP_004521.1:p.Asp383=
ENST00000219070.8:c.1149T= ENSP00000219070.4:p.Asp383=
ENST00000437642.6:c.999T= ENSP00000394237.2:p.Asp333=
ENST00000543485.5:c.921T= ENSP00000444143.1:p.Asp307=
ENST00000570283.1:c.55+1077T= ENSP00000456518.1:n.55+1077T=
ENST00000570308.5:c.921T= ENSP00000461421.1:p.Asp307=