Canonical Allele Identifier: CA8060594
Community Standard Title: NM_004530.6(MMP2):c.1842C>G (p.Pro614=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55502851C>G , CM000678.2:g.55502851C>G GRCh38
NC_000016.9:g.55536763C>G , CM000678.1:g.55536763C>G GRCh37
NC_000016.8:g.54094264C>G NCBI36
NG_008989.1:g.28683C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.1842C>G MANE Select NP_004521.1:p.Pro614=
ENST00000219070.9:c.1842C>G MANE Select ENSP00000219070.4:p.Pro614=
NM_001127891.2:c.1692C>G NP_001121363.1:p.Pro564=
NM_001127891.3:c.1692C>G NP_001121363.1:p.Pro564=
NM_001302508.1:c.1614C>G NP_001289437.1:p.Pro538=
NM_001302509.1:c.1614C>G NP_001289438.1:p.Pro538=
NM_001302509.2:c.1614C>G NP_001289438.1:p.Pro538=
NM_001302510.1:c.1614C>G NP_001289439.1:p.Pro538=
NM_001302510.2:c.1614C>G NP_001289439.1:p.Pro538=
NM_004530.5:c.1842C>G NP_004521.1:p.Pro614=
ENST00000219070.8:c.1842C>G ENSP00000219070.4:p.Pro614=
ENST00000437642.6:c.1692C>G ENSP00000394237.2:p.Pro564=
ENST00000543485.5:c.1614C>G ENSP00000444143.1:p.Pro538=
ENST00000570283.1:c.717C>G ENSP00000456518.1:p.Pro239=
ENST00000570308.5:c.1614C>G ENSP00000461421.1:p.Pro538=