Canonical Allele Identifier: CA8060041
Community Standard Title: NM_004530.6(MMP2):c.306C>T (p.Cys102=)
Gene: MMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55483061C>T , CM000678.2:g.55483061C>T GRCh38
NC_000016.9:g.55516973C>T , CM000678.1:g.55516973C>T GRCh37
NC_000016.8:g.54074474C>T NCBI36
NG_008989.1:g.8893C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004530.6:c.306C>T MANE Select NP_004521.1:p.Cys102=
ENST00000219070.9:c.306C>T MANE Select ENSP00000219070.4:p.Cys102=
NM_001127891.2:c.156C>T NP_001121363.1:p.Cys52=
NM_001127891.3:c.156C>T NP_001121363.1:p.Cys52=
NM_001302508.1:c.78C>T NP_001289437.1:p.Cys26=
NM_001302509.1:c.78C>T NP_001289438.1:p.Cys26=
NM_001302509.2:c.78C>T NP_001289438.1:p.Cys26=
NM_001302510.1:c.78C>T NP_001289439.1:p.Cys26=
NM_001302510.2:c.78C>T NP_001289439.1:p.Cys26=
NM_004530.5:c.306C>T NP_004521.1:p.Cys102=
ENST00000219070.8:c.306C>T ENSP00000219070.4:p.Cys102=
ENST00000437642.6:c.156C>T ENSP00000394237.2:p.Cys52=
ENST00000543485.5:c.78C>T ENSP00000444143.1:p.Cys26=
ENST00000564864.5:c.78C>T ENSP00000456096.1:p.Cys26=
ENST00000568715.5:c.78C>T ENSP00000457949.1:p.Cys26=
ENST00000570308.5:c.78C>T ENSP00000461421.1:p.Cys26=