Canonical Allele Identifier: CA281402027
Community Standard Title: NM_004530.6(MMP2):c.*799G>A
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55506241G>A , CM000678.2:g.55506241G>A GRCh38
NC_000016.9:g.55540153G>A , CM000678.1:g.55540153G>A GRCh37
NC_000016.8:g.54097654G>A NCBI36
NG_008989.1:g.32073G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.*799G>A MANE Select NP_004521.1:n.*799G>A
ENST00000219070.9:c.*799G>A MANE Select ENSP00000219070.4:n.*799G>A
NM_001127891.2:c.*799G>A NP_001121363.1:n.*799G>A
NM_001127891.3:c.*799G>A NP_001121363.1:n.*799G>A
NM_001302508.1:c.*799G>A NP_001289437.1:n.*799G>A
NM_001302509.1:c.*799G>A NP_001289438.1:n.*799G>A
NM_001302509.2:c.*799G>A NP_001289438.1:n.*799G>A
NM_001302510.1:c.*799G>A NP_001289439.1:n.*799G>A
NM_001302510.2:c.*799G>A NP_001289439.1:n.*799G>A
NM_004530.5:c.*799G>A NP_004521.1:n.*799G>A
ENST00000219070.8:c.*799G>A ENSP00000219070.4:n.*799G>A