Canonical Allele Identifier: CA15868194
Gene: MMP2 HGNC NCBI
COSMIC:
COSN19612113 (not active)
MyVariant.info:
GRCh38 chr16:g.55482855G>A
GRCh37 chr16:g.55516767G>A
gnomAD v2:
16:55516767 G / A
gnomAD v3:
16:55482855 G / A
gnomAD v4:
chr16-55482855-G-A
Joint Max Group AF 0.43419266 (AMR)
Genomes Max Group AF 0.41570428 (AMR)
Exomes Max Group AF 0.43846781 (AMR)
ClinVar RCV:
RCV001658574
ClinVar Variation:
1252273
dbSNP:
1030868
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55482855G>A , CM000678.2:g.55482855G>A GRCh38
NC_000016.9:g.55516767G>A , CM000678.1:g.55516767G>A GRCh37
NC_000016.8:g.54074268G>A NCBI36
NG_008989.1:g.8687G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.154-54G>A MANE Select ENSP00000219070.4:n.154-54G>A
ENST00000219070.8:c.154-54G>A ENSP00000219070.4:n.154-54G>A
ENST00000437642.6:c.4-54G>A ENSP00000394237.2:n.4-54G>A
ENST00000543485.5:c.-75-54G>A ENSP00000444143.1:n.-75-54G>A
ENST00000564864.5:c.-75-54G>A ENSP00000456096.1:n.-75-54G>A
ENST00000568715.5:c.-75-54G>A ENSP00000457949.1:n.-75-54G>A
ENST00000570308.5:c.-75-54G>A ENSP00000461421.1:n.-75-54G>A
NM_001127891.2:c.4-54G>A NP_001121363.1:n.4-54G>A
NM_001302508.1:c.-75-54G>A NP_001289437.1:n.-75-54G>A
NM_001302509.1:c.-75-54G>A NP_001289438.1:n.-75-54G>A
NM_001302510.1:c.-75-54G>A NP_001289439.1:n.-75-54G>A
NM_004530.5:c.154-54G>A NP_004521.1:n.154-54G>A
NM_004530.6:c.154-54G>A MANE Select NP_004521.1:n.154-54G>A
NM_001127891.3:c.4-54G>A NP_001121363.1:n.4-54G>A
NM_001302509.2:c.-75-54G>A NP_001289438.1:n.-75-54G>A
NM_001302510.2:c.-75-54G>A NP_001289439.1:n.-75-54G>A
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