Canonical Allele Identifier: CA14247539
Gene: MMP2 HGNC NCBI
dbSNP:
243864
gnomAD v2:
16:55512322 T / G
gnomAD v3:
16:55478410 T / G
gnomAD v4:
chr16-55478410-T-G
Joint Max Group AF 0.24767966 (NFE)
Genomes Max Group AF 0.24767966 (NFE)
MyVariant.info:
GRCh38 chr16:g.55478410T>G
GRCh37 chr16:g.55512322T>G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55478410T>G , CM000678.2:g.55478410T>G GRCh38
NC_000016.9:g.55512322T>G , CM000678.1:g.55512322T>G GRCh37
NC_000016.8:g.54069823T>G NCBI36
NG_008989.1:g.4242T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000570308.5:c.-75-4499T>G ENSP00000461421.1:n.-75-4499T>G
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