Canonical Allele Identifier: CA8060600
Community Standard Title: NM_004530.6(MMP2):c.1860C>T (p.Val620=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55502869C>T , CM000678.2:g.55502869C>T GRCh38
NC_000016.9:g.55536781C>T , CM000678.1:g.55536781C>T GRCh37
NC_000016.8:g.54094282C>T NCBI36
NG_008989.1:g.28701C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.1860C>T MANE Select NP_004521.1:p.Val620=
ENST00000219070.9:c.1860C>T MANE Select ENSP00000219070.4:p.Val620=
NM_001127891.2:c.1710C>T NP_001121363.1:p.Val570=
NM_001127891.3:c.1710C>T NP_001121363.1:p.Val570=
NM_001302508.1:c.1632C>T NP_001289437.1:p.Val544=
NM_001302509.1:c.1632C>T NP_001289438.1:p.Val544=
NM_001302509.2:c.1632C>T NP_001289438.1:p.Val544=
NM_001302510.1:c.1632C>T NP_001289439.1:p.Val544=
NM_001302510.2:c.1632C>T NP_001289439.1:p.Val544=
NM_004530.5:c.1860C>T NP_004521.1:p.Val620=
ENST00000219070.8:c.1860C>T ENSP00000219070.4:p.Val620=
ENST00000437642.6:c.1710C>T ENSP00000394237.2:p.Val570=
ENST00000543485.5:c.1632C>T ENSP00000444143.1:p.Val544=
ENST00000570283.1:c.735C>T ENSP00000456518.1:p.Val245=
ENST00000570308.5:c.1632C>T ENSP00000461421.1:p.Val544=