Canonical Allele Identifier: CA8060197
Community Standard Title: NM_004530.6(MMP2):c.813C>T (p.Tyr271=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55485758C>T , CM000678.2:g.55485758C>T GRCh38
NC_000016.9:g.55519670C>T , CM000678.1:g.55519670C>T GRCh37
NC_000016.8:g.54077171C>T NCBI36
NG_008989.1:g.11590C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.813C>T MANE Select NP_004521.1:p.Tyr271=
ENST00000219070.9:c.813C>T MANE Select ENSP00000219070.4:p.Tyr271=
NM_001127891.2:c.663C>T NP_001121363.1:p.Tyr221=
NM_001127891.3:c.663C>T NP_001121363.1:p.Tyr221=
NM_001302508.1:c.585C>T NP_001289437.1:p.Tyr195=
NM_001302509.1:c.585C>T NP_001289438.1:p.Tyr195=
NM_001302509.2:c.585C>T NP_001289438.1:p.Tyr195=
NM_001302510.1:c.585C>T NP_001289439.1:p.Tyr195=
NM_001302510.2:c.585C>T NP_001289439.1:p.Tyr195=
NM_004530.5:c.813C>T NP_004521.1:p.Tyr271=
ENST00000219070.8:c.813C>T ENSP00000219070.4:p.Tyr271=
ENST00000437642.6:c.663C>T ENSP00000394237.2:p.Tyr221=
ENST00000543485.5:c.585C>T ENSP00000444143.1:p.Tyr195=
ENST00000564864.5:c.585C>T ENSP00000456096.1:p.Tyr195=
ENST00000570308.5:c.585C>T ENSP00000461421.1:p.Tyr195=