Canonical Allele Identifier: CA8060490
Community Standard Title: NM_004530.6(MMP2):c.1560T>C (p.Ile520=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55497013T>C , CM000678.2:g.55497013T>C GRCh38
NC_000016.9:g.55530925T>C , CM000678.1:g.55530925T>C GRCh37
NC_000016.8:g.54088426T>C NCBI36
NG_008989.1:g.22845T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.1560T>C MANE Select NP_004521.1:p.Ile520=
ENST00000219070.9:c.1560T>C MANE Select ENSP00000219070.4:p.Ile520=
NM_001127891.2:c.1410T>C NP_001121363.1:p.Ile470=
NM_001127891.3:c.1410T>C NP_001121363.1:p.Ile470=
NM_001302508.1:c.1332T>C NP_001289437.1:p.Ile444=
NM_001302509.1:c.1332T>C NP_001289438.1:p.Ile444=
NM_001302509.2:c.1332T>C NP_001289438.1:p.Ile444=
NM_001302510.1:c.1332T>C NP_001289439.1:p.Ile444=
NM_001302510.2:c.1332T>C NP_001289439.1:p.Ile444=
NM_004530.5:c.1560T>C NP_004521.1:p.Ile520=
ENST00000219070.8:c.1560T>C ENSP00000219070.4:p.Ile520=
ENST00000437642.6:c.1410T>C ENSP00000394237.2:p.Ile470=
ENST00000543485.5:c.1332T>C ENSP00000444143.1:p.Ile444=
ENST00000570283.1:c.435T>C ENSP00000456518.1:p.Ile145=
ENST00000570308.5:c.1332T>C ENSP00000461421.1:p.Ile444=