Canonical Allele Identifier: CA281394858
Gene: MMP2 HGNC NCBI
dbSNP:
2285053
gnomAD v2:
16:55512377 C / T
gnomAD v3:
16:55478465 C / T
gnomAD v4:
chr16-55478465-C-T
Joint Max Group AF 0.24681513 (EAS)
Genomes Max Group AF 0.24681513 (EAS)
MyVariant.info:
GRCh38 chr16:g.55478465C>T
GRCh37 chr16:g.55512377C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55478465C>T , CM000678.2:g.55478465C>T GRCh38
NC_000016.9:g.55512377C>T , CM000678.1:g.55512377C>T GRCh37
NC_000016.8:g.54069878C>T NCBI36
NG_008989.1:g.4297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570308.5:c.-75-4444C>T ENSP00000461421.1:n.-75-4444C>T
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