Canonical Allele Identifier: CA10648598
Gene: MMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55505702A>C
GRCh37 chr16:g.55539614A>C
gnomAD v2:
16:55539614 A / C
gnomAD v3:
16:55505702 A / C
gnomAD v4:
chr16-55505702-A-C
Joint Max Group AF 0.45448043 (NFE)
Genomes Max Group AF 0.4526198 (NFE)
Exomes Max Group AF 0.45409508 (NFE)
ClinVar RCV:
RCV000342813
RCV001514058
ClinVar Variation:
319776
dbSNP:
7201
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55505702A>C , CM000678.2:g.55505702A>C GRCh38
NC_000016.9:g.55539614A>C , CM000678.1:g.55539614A>C GRCh37
NC_000016.8:g.54097115A>C NCBI36
NG_008989.1:g.31534A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.*260A>C MANE Select ENSP00000219070.4:n.*260A>C
ENST00000219070.8:c.*260A>C ENSP00000219070.4:n.*260A>C
ENST00000437642.6:c.*260A>C ENSP00000394237.2:n.*260A>C
ENST00000566564.1:c.205+123A>C
ENST00000570308.5:c.*260A>C ENSP00000461421.1:n.*260A>C
NM_001127891.2:c.*260A>C NP_001121363.1:n.*260A>C
NM_001302508.1:c.*260A>C NP_001289437.1:n.*260A>C
NM_001302509.1:c.*260A>C NP_001289438.1:n.*260A>C
NM_001302510.1:c.*260A>C NP_001289439.1:n.*260A>C
NM_004530.5:c.*260A>C NP_004521.1:n.*260A>C
NM_004530.6:c.*260A>C MANE Select NP_004521.1:n.*260A>C
NM_001127891.3:c.*260A>C NP_001121363.1:n.*260A>C
NM_001302509.2:c.*260A>C NP_001289438.1:n.*260A>C
NM_001302510.2:c.*260A>C NP_001289439.1:n.*260A>C
Search 100 bp 5'
Search 100 bp 3'