Canonical Allele Identifier: CA373830093

Gene: ECM2 CENPP

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92502585A>G , CM000671.2:g.92502585A>G	GRCh38
NC_000009.11:g.95264867A>G , CM000671.1:g.95264867A>G	GRCh37
NC_000009.10:g.94304688A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001012267.3:c.565-108729A>G (CENPP) MANE Select	NP_001012267.1:n.565-108729A>G
NM_001393.4:c.1532T>C (ECM2) MANE Select	NP_001384.1:p.Ile511Thr
ENST00000344604.10:c.1532T>C (ECM2) MANE Select	ENSP00000344758.5:p.Ile511Thr
ENST00000375587.8:c.565-108729A>G (CENPP) MANE Select	ENSP00000364737.3:n.565-108729A>G
NM_001012267.2:c.565-108729A>G (CENPP)	NP_001012267.1:n.565-108729A>G
NM_001197295.1:c.1466T>C (ECM2)	NP_001184224.1:p.Ile489Thr
NM_001197295.2:c.1466T>C (ECM2)	NP_001184224.1:p.Ile489Thr
NM_001197296.1:c.1466T>C (ECM2)	NP_001184225.1:p.Ile489Thr
NM_001197296.2:c.1466T>C (ECM2)	NP_001184225.1:p.Ile489Thr
NM_001286969.1:c.229-108729A>G (CENPP)	NP_001273898.1:n.229-108729A>G
NM_001393.3:c.1532T>C (ECM2)	NP_001384.1:p.Ile511Thr
ENST00000344604.9:c.1532T>C (ECM2)	ENSP00000344758.5:p.Ile511Thr
ENST00000375587.7:c.565-108729A>G (CENPP)	ENSP00000364737.3:n.565-108729A>G
ENST00000444490.6:c.1466T>C (ECM2)	ENSP00000393971.2:p.Ile489Thr
XM_011518688.1:c.565-84133A>G (CENPP)	XP_011516990.1:n.565-84133A>G
XM_024447435.1:c.1532T>C (ECM2)	XP_024303203.1:p.Ile511Thr
XM_024447436.1:c.1532T>C (ECM2)	XP_024303204.1:p.Ile511Thr
XM_024447437.1:c.1466T>C (ECM2)	XP_024303205.1:p.Ile489Thr
XM_024447543.1:c.289-108729A>G (CENPP)	XP_024303311.1:n.289-108729A>G