Canonical Allele Identifier: CA8060033

Gene: MMP2

Linked Data

• dbSNP Id: rs772094112
• ExAC: 16:55516942 A / G
• gnomAD v2: 16-55516942-A-G
• gnomAD v3: 16-55483030-A-G
• gnomAD v4: 16-55483030-A-G
• COSMIC: COSM4821173
• MyVariant Identifiers: chr16:g.55516942A>G (hg19) ; chr16:g.55483030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55483030A>G , CM000678.2:g.55483030A>G	GRCh38
NC_000016.9:g.55516942A>G , CM000678.1:g.55516942A>G	GRCh37
NC_000016.8:g.54074443A>G	NCBI36
NG_008989.1:g.8862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.275A>G MANE Select	ENSP00000219070.4:p.Asn92Ser
ENST00000219070.8:c.275A>G	ENSP00000219070.4:p.Asn92Ser
ENST00000437642.6:c.125A>G	ENSP00000394237.2:p.Asn42Ser
ENST00000543485.5:c.47A>G	ENSP00000444143.1:p.Asn16Ser
ENST00000564864.5:c.47A>G	ENSP00000456096.1:p.Asn16Ser
ENST00000568715.5:c.47A>G	ENSP00000457949.1:p.Asn16Ser
ENST00000570308.5:c.47A>G	ENSP00000461421.1:p.Asn16Ser
NM_001127891.2:c.125A>G	NP_001121363.1:p.Asn42Ser
NM_001302508.1:c.47A>G	NP_001289437.1:p.Asn16Ser
NM_001302509.1:c.47A>G	NP_001289438.1:p.Asn16Ser
NM_001302510.1:c.47A>G	NP_001289439.1:p.Asn16Ser
NM_004530.5:c.275A>G	NP_004521.1:p.Asn92Ser
NM_004530.6:c.275A>G MANE Select	NP_004521.1:p.Asn92Ser
NM_001127891.3:c.125A>G	NP_001121363.1:p.Asn42Ser
NM_001302509.2:c.47A>G	NP_001289438.1:p.Asn16Ser
NM_001302510.2:c.47A>G	NP_001289439.1:p.Asn16Ser