Canonical Allele Identifier: CA10638008

Gene: MMP2

Linked Data

• ClinVar Variation Id: 319747
• ClinVar RCV Id: RCV000269808 ; RCV003660779
• dbSNP Id: rs886052125
• gnomAD v4: 16-55485357-C-T
• MyVariant Identifiers: chr16:g.55519269C>T (hg19) ; chr16:g.55485357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55485357C>T , CM000678.2:g.55485357C>T	GRCh38
NC_000016.9:g.55519269C>T , CM000678.1:g.55519269C>T	GRCh37
NC_000016.8:g.54076770C>T	NCBI36
NG_008989.1:g.11189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219070.9:c.588C>T MANE Select	ENSP00000219070.4:p.Ala196=
ENST00000219070.8:c.588C>T	ENSP00000219070.4:p.Ala196=
ENST00000437642.6:c.438C>T	ENSP00000394237.2:p.Ala146=
ENST00000543485.5:c.360C>T	ENSP00000444143.1:p.Ala120=
ENST00000564864.5:c.360C>T	ENSP00000456096.1:p.Ala120=
ENST00000570308.5:c.360C>T	ENSP00000461421.1:p.Ala120=
NM_001127891.2:c.438C>T	NP_001121363.1:p.Ala146=
NM_001302508.1:c.360C>T	NP_001289437.1:p.Ala120=
NM_001302509.1:c.360C>T	NP_001289438.1:p.Ala120=
NM_001302510.1:c.360C>T	NP_001289439.1:p.Ala120=
NM_004530.5:c.588C>T	NP_004521.1:p.Ala196=
NM_004530.6:c.588C>T MANE Select	NP_004521.1:p.Ala196=
NM_001127891.3:c.438C>T	NP_001121363.1:p.Ala146=
NM_001302509.2:c.360C>T	NP_001289438.1:p.Ala120=
NM_001302510.2:c.360C>T	NP_001289439.1:p.Ala120=