Canonical Allele Identifier: CA12733584

Gene: MATN2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98009781C>A , CM000670.2:g.98009781C>A	GRCh38
NC_000008.10:g.99022009C>A , CM000670.1:g.99022009C>A	GRCh37
NC_000008.9:g.99091185C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254898.7:c.1573+2180C>A MANE Select	ENSP00000254898.6:n.1573+2180C>A
ENST00000254898.6:c.1573+2180C>A	ENSP00000254898.6:n.1573+2180C>A
ENST00000518154.5:c.920+2180C>A
ENST00000520016.5:c.1573+2180C>A	ENSP00000430487.1:n.1573+2180C>A
ENST00000521689.5:c.1573+2180C>A	ENSP00000429977.1:n.1573+2180C>A
ENST00000521952.5:c.123+2180C>A
ENST00000522025.6:c.721+2180C>A	ENSP00000429010.1:n.721+2180C>A
ENST00000524308.5:c.1450+2180C>A	ENSP00000430221.1:n.1450+2180C>A
NM_002380.3:c.1573+2180C>A	NP_002371.3:n.1573+2180C>A
NM_030583.2:c.1573+2180C>A	NP_085072.2:n.1573+2180C>A
XM_005250920.1:c.1573+2180C>A	XP_005250977.1:n.1573+2180C>A
XM_011517038.1:c.1450+2180C>A	XP_011515340.1:n.1450+2180C>A
NM_001317748.1:c.1450+2180C>A	NP_001304677.1:n.1450+2180C>A
NM_002380.4:c.1573+2180C>A	NP_002371.3:n.1573+2180C>A
NM_030583.3:c.1573+2180C>A	NP_085072.2:n.1573+2180C>A
XM_005250920.2:c.1573+2180C>A	XP_005250977.1:n.1573+2180C>A
XM_017013417.2:c.1450+2180C>A	XP_016868906.1:n.1450+2180C>A
XM_017013418.2:c.1573+2180C>A	XP_016868907.1:n.1573+2180C>A
NM_002380.5:c.1573+2180C>A MANE Select	NP_002371.3:n.1573+2180C>A
NM_001317748.2:c.1450+2180C>A	NP_001304677.1:n.1450+2180C>A
NM_030583.4:c.1573+2180C>A	NP_085072.2:n.1573+2180C>A