Canonical Allele Identifier: CA10643838
Community Standard Title: NM_004530.6(MMP2):c.*453C>G
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55505895C>G , CM000678.2:g.55505895C>G GRCh38
NC_000016.9:g.55539807C>G , CM000678.1:g.55539807C>G GRCh37
NC_000016.8:g.54097308C>G NCBI36
NG_008989.1:g.31727C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.*453C>G MANE Select NP_004521.1:n.*453C>G
ENST00000219070.9:c.*453C>G MANE Select ENSP00000219070.4:n.*453C>G
NM_001127891.2:c.*453C>G NP_001121363.1:n.*453C>G
NM_001127891.3:c.*453C>G NP_001121363.1:n.*453C>G
NM_001302508.1:c.*453C>G NP_001289437.1:n.*453C>G
NM_001302509.1:c.*453C>G NP_001289438.1:n.*453C>G
NM_001302509.2:c.*453C>G NP_001289438.1:n.*453C>G
NM_001302510.1:c.*453C>G NP_001289439.1:n.*453C>G
NM_001302510.2:c.*453C>G NP_001289439.1:n.*453C>G
NM_004530.5:c.*453C>G NP_004521.1:n.*453C>G
ENST00000219070.8:c.*453C>G ENSP00000219070.4:n.*453C>G
ENST00000566564.1:c.206-107C>G
ENST00000570308.5:c.*453C>G ENSP00000461421.1:n.*453C>G