Canonical Allele Identifier: CA281401947
Community Standard Title: NM_004530.6(MMP2):c.*277G>A
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55505719G>A , CM000678.2:g.55505719G>A GRCh38
NC_000016.9:g.55539631G>A , CM000678.1:g.55539631G>A GRCh37
NC_000016.8:g.54097132G>A NCBI36
NG_008989.1:g.31551G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.*277G>A MANE Select NP_004521.1:n.*277G>A
ENST00000219070.9:c.*277G>A MANE Select ENSP00000219070.4:n.*277G>A
NM_001127891.2:c.*277G>A NP_001121363.1:n.*277G>A
NM_001127891.3:c.*277G>A NP_001121363.1:n.*277G>A
NM_001302508.1:c.*277G>A NP_001289437.1:n.*277G>A
NM_001302509.1:c.*277G>A NP_001289438.1:n.*277G>A
NM_001302509.2:c.*277G>A NP_001289438.1:n.*277G>A
NM_001302510.1:c.*277G>A NP_001289439.1:n.*277G>A
NM_001302510.2:c.*277G>A NP_001289439.1:n.*277G>A
NM_004530.5:c.*277G>A NP_004521.1:n.*277G>A
ENST00000219070.8:c.*277G>A ENSP00000219070.4:n.*277G>A
ENST00000437642.6:c.*277G>A ENSP00000394237.2:n.*277G>A
ENST00000566564.1:c.205+140G>A
ENST00000570308.5:c.*277G>A ENSP00000461421.1:n.*277G>A