Canonical Allele Identifier: CA8060258
Community Standard Title: NM_004530.6(MMP2):c.969C>T (p.Tyr323=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55488679C>T , CM000678.2:g.55488679C>T GRCh38
NC_000016.9:g.55522591C>T , CM000678.1:g.55522591C>T GRCh37
NC_000016.8:g.54080092C>T NCBI36
NG_008989.1:g.14511C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.969C>T MANE Select NP_004521.1:p.Tyr323=
ENST00000219070.9:c.969C>T MANE Select ENSP00000219070.4:p.Tyr323=
NM_001127891.2:c.819C>T NP_001121363.1:p.Tyr273=
NM_001127891.3:c.819C>T NP_001121363.1:p.Tyr273=
NM_001302508.1:c.741C>T NP_001289437.1:p.Tyr247=
NM_001302509.1:c.741C>T NP_001289438.1:p.Tyr247=
NM_001302509.2:c.741C>T NP_001289438.1:p.Tyr247=
NM_001302510.1:c.741C>T NP_001289439.1:p.Tyr247=
NM_001302510.2:c.741C>T NP_001289439.1:p.Tyr247=
NM_004530.5:c.969C>T NP_004521.1:p.Tyr323=
ENST00000219070.8:c.969C>T ENSP00000219070.4:p.Tyr323=
ENST00000437642.6:c.819C>T ENSP00000394237.2:p.Tyr273=
ENST00000543485.5:c.741C>T ENSP00000444143.1:p.Tyr247=
ENST00000570283.1:c.18C>T ENSP00000456518.1:p.Tyr6=
ENST00000570308.5:c.741C>T ENSP00000461421.1:p.Tyr247=