Canonical Allele Identifier: CA8060318
Community Standard Title: NM_004530.6(MMP2):c.1144G>A (p.Asp382Asn)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55489788G>A , CM000678.2:g.55489788G>A GRCh38
NC_000016.9:g.55523700G>A , CM000678.1:g.55523700G>A GRCh37
NC_000016.8:g.54081201G>A NCBI36
NG_008989.1:g.15620G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.1144G>A MANE Select NP_004521.1:p.Asp382Asn
ENST00000219070.9:c.1144G>A MANE Select ENSP00000219070.4:p.Asp382Asn
NM_001127891.2:c.994G>A NP_001121363.1:p.Asp332Asn
NM_001127891.3:c.994G>A NP_001121363.1:p.Asp332Asn
NM_001302508.1:c.916G>A NP_001289437.1:p.Asp306Asn
NM_001302509.1:c.916G>A NP_001289438.1:p.Asp306Asn
NM_001302509.2:c.916G>A NP_001289438.1:p.Asp306Asn
NM_001302510.1:c.916G>A NP_001289439.1:p.Asp306Asn
NM_001302510.2:c.916G>A NP_001289439.1:p.Asp306Asn
NM_004530.5:c.1144G>A NP_004521.1:p.Asp382Asn
ENST00000219070.8:c.1144G>A ENSP00000219070.4:p.Asp382Asn
ENST00000437642.6:c.994G>A ENSP00000394237.2:p.Asp332Asn
ENST00000543485.5:c.916G>A ENSP00000444143.1:p.Asp306Asn
ENST00000570283.1:c.55+1072G>A ENSP00000456518.1:n.55+1072G>A
ENST00000570308.5:c.916G>A ENSP00000461421.1:p.Asp306Asn