Canonical Allele Identifier: CA8060319
Gene: MMP2 HGNC NCBI
COSMIC:
COSM4129119 (not active)
MyVariant.info:
GRCh38 chr16:g.55489793T>C
GRCh37 chr16:g.55523705T>C
gnomAD v2:
16:55523705 T / C
gnomAD v3:
16:55489793 T / C
gnomAD v4:
chr16-55489793-T-C
Joint Max Group AF 0.88645877 (SAS)
Genomes Max Group AF 0.86494119 (SAS)
Exomes Max Group AF 0.88656435 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55489793T>C , CM000678.2:g.55489793T>C GRCh38
NC_000016.9:g.55523705T>C , CM000678.1:g.55523705T>C GRCh37
NC_000016.8:g.54081206T>C NCBI36
NG_008989.1:g.15625T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219070.9:c.1149T>C MANE Select ENSP00000219070.4:p.Asp383=
ENST00000219070.8:c.1149T>C ENSP00000219070.4:p.Asp383=
ENST00000437642.6:c.999T>C ENSP00000394237.2:p.Asp333=
ENST00000543485.5:c.921T>C ENSP00000444143.1:p.Asp307=
ENST00000570283.1:c.55+1077T>C ENSP00000456518.1:n.55+1077T>C
ENST00000570308.5:c.921T>C ENSP00000461421.1:p.Asp307=
NM_001127891.2:c.999T>C NP_001121363.1:p.Asp333=
NM_001302508.1:c.921T>C NP_001289437.1:p.Asp307=
NM_001302509.1:c.921T>C NP_001289438.1:p.Asp307=
NM_001302510.1:c.921T>C NP_001289439.1:p.Asp307=
NM_004530.5:c.1149T>C NP_004521.1:p.Asp383=
NM_004530.6:c.1149T>C MANE Select NP_004521.1:p.Asp383=
NM_001127891.3:c.999T>C NP_001121363.1:p.Asp333=
NM_001302509.2:c.921T>C NP_001289438.1:p.Asp307=
NM_001302510.2:c.921T>C NP_001289439.1:p.Asp307=
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