Canonical Allele Identifier: CA395931647
Community Standard Title: NM_004530.6(MMP2):c.301C>T (p.Arg101Cys)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55483056C>T , CM000678.2:g.55483056C>T GRCh38
NC_000016.9:g.55516968C>T , CM000678.1:g.55516968C>T GRCh37
NC_000016.8:g.54074469C>T NCBI36
NG_008989.1:g.8888C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.301C>T MANE Select NP_004521.1:p.Arg101Cys
ENST00000219070.9:c.301C>T MANE Select ENSP00000219070.4:p.Arg101Cys
NM_001127891.2:c.151C>T NP_001121363.1:p.Arg51Cys
NM_001127891.3:c.151C>T NP_001121363.1:p.Arg51Cys
NM_001302508.1:c.73C>T NP_001289437.1:p.Arg25Cys
NM_001302509.1:c.73C>T NP_001289438.1:p.Arg25Cys
NM_001302509.2:c.73C>T NP_001289438.1:p.Arg25Cys
NM_001302510.1:c.73C>T NP_001289439.1:p.Arg25Cys
NM_001302510.2:c.73C>T NP_001289439.1:p.Arg25Cys
NM_004530.5:c.301C>T NP_004521.1:p.Arg101Cys
ENST00000219070.8:c.301C>T ENSP00000219070.4:p.Arg101Cys
ENST00000437642.6:c.151C>T ENSP00000394237.2:p.Arg51Cys
ENST00000543485.5:c.73C>T ENSP00000444143.1:p.Arg25Cys
ENST00000564864.5:c.73C>T ENSP00000456096.1:p.Arg25Cys
ENST00000568715.5:c.73C>T ENSP00000457949.1:p.Arg25Cys
ENST00000570308.5:c.73C>T ENSP00000461421.1:p.Arg25Cys