Canonical Allele Identifier: CA8060423
Gene: MMP2 HGNC NCBI
COSMIC:
COSM5008482 (not active)
MyVariant.info:
GRCh38 chr16:g.55493201G>A
GRCh37 chr16:g.55527113G>A
gnomAD v2:
16:55527113 G / A
gnomAD v3:
16:55493201 G / A
gnomAD v4:
chr16-55493201-G-A
Joint Max Group AF 0.44138659 (NFE)
Genomes Max Group AF 0.43613967 (NFE)
Exomes Max Group AF 0.44148246 (NFE)
ClinVar RCV:
RCV000394276
RCV001512557
ClinVar Variation:
319761
dbSNP:
2287074
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55493201G>A , CM000678.2:g.55493201G>A GRCh38
NC_000016.9:g.55527113G>A , CM000678.1:g.55527113G>A GRCh37
NC_000016.8:g.54084614G>A NCBI36
NG_008989.1:g.19033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.1380G>A MANE Select ENSP00000219070.4:p.Thr460=
ENST00000219070.8:c.1380G>A ENSP00000219070.4:p.Thr460=
ENST00000437642.6:c.1230G>A ENSP00000394237.2:p.Thr410=
ENST00000543485.5:c.1152G>A ENSP00000444143.1:p.Thr384=
ENST00000570283.1:c.255G>A ENSP00000456518.1:p.Thr85=
ENST00000570308.5:c.1152G>A ENSP00000461421.1:p.Thr384=
NM_001127891.2:c.1230G>A NP_001121363.1:p.Thr410=
NM_001302508.1:c.1152G>A NP_001289437.1:p.Thr384=
NM_001302509.1:c.1152G>A NP_001289438.1:p.Thr384=
NM_001302510.1:c.1152G>A NP_001289439.1:p.Thr384=
NM_004530.5:c.1380G>A NP_004521.1:p.Thr460=
NM_004530.6:c.1380G>A MANE Select NP_004521.1:p.Thr460=
NM_001127891.3:c.1230G>A NP_001121363.1:p.Thr410=
NM_001302509.2:c.1152G>A NP_001289438.1:p.Thr384=
NM_001302510.2:c.1152G>A NP_001289439.1:p.Thr384=
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