Canonical Allele Identifier: CA14247557
Gene: MMP2 HGNC NCBI
ClinVar RCV:
RCV001620457
ClinVar Variation:
1234221
COSMIC:
COSN19623193
COSN20280549
dbSNP:
243832
gnomAD v2:
16:55539191 C / G
gnomAD v3:
16:55505279 C / G
gnomAD v4:
chr16-55505279-C-G
Joint Max Group AF 0.62512095 (EAS)
Genomes Max Group AF 0.6234072 (EAS)
Exomes Max Group AF 0.62335397 (EAS)
MyVariant.info:
GRCh38 chr16:g.55505279C>G
GRCh37 chr16:g.55539191C>G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55505279C>G , CM000678.2:g.55505279C>G GRCh38
NC_000016.9:g.55539191C>G , CM000678.1:g.55539191C>G GRCh37
NC_000016.8:g.54096692C>G NCBI36
NG_008989.1:g.31111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.1880-60C>G MANE Select ENSP00000219070.4:n.1880-60C>G
ENST00000219070.8:c.1880-60C>G ENSP00000219070.4:n.1880-60C>G
ENST00000437642.6:c.1730-60C>G ENSP00000394237.2:n.1730-60C>G
ENST00000543485.5:c.1652-60C>G ENSP00000444143.1:n.1652-60C>G
ENST00000570308.5:c.1652-60C>G ENSP00000461421.1:n.1652-60C>G
NM_001127891.2:c.1730-60C>G NP_001121363.1:n.1730-60C>G
NM_001302508.1:c.1652-60C>G NP_001289437.1:n.1652-60C>G
NM_001302509.1:c.1652-60C>G NP_001289438.1:n.1652-60C>G
NM_001302510.1:c.1652-60C>G NP_001289439.1:n.1652-60C>G
NM_004530.5:c.1880-60C>G NP_004521.1:n.1880-60C>G
NM_004530.6:c.1880-60C>G MANE Select NP_004521.1:n.1880-60C>G
NM_001127891.3:c.1730-60C>G NP_001121363.1:n.1730-60C>G
NM_001302509.2:c.1652-60C>G NP_001289438.1:n.1652-60C>G
NM_001302510.2:c.1652-60C>G NP_001289439.1:n.1652-60C>G
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