Canonical Allele Identifier: CA15885220
Gene: MMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55477894C>T
GRCh37 chr16:g.55511806C>T
gnomAD v2:
16:55511806 C / T
gnomAD v3:
16:55477894 C / T
gnomAD v4:
chr16-55477894-C-T
Joint Max Group AF 0.24575006 (NFE)
Genomes Max Group AF 0.24575006 (NFE)
ClinVar RCV:
RCV000493884
ClinVar Variation:
429032
dbSNP:
243865
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55477894C>T , CM000678.2:g.55477894C>T GRCh38
NC_000016.9:g.55511806C>T , CM000678.1:g.55511806C>T GRCh37
NC_000016.8:g.54069307C>T NCBI36
NG_008989.1:g.3726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570308.5:c.-75-5015C>T ENSP00000461421.1:n.-75-5015C>T
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