Canonical Allele Identifier: CA182248589

Gene: MATN2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97898059C>T , CM000670.2:g.97898059C>T	GRCh38
NC_000008.10:g.98910287C>T , CM000670.1:g.98910287C>T	GRCh37
NC_000008.9:g.98979463C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254898.7:c.142+9817C>T MANE Select	ENSP00000254898.6:n.142+9817C>T
ENST00000254898.6:c.142+9817C>T	ENSP00000254898.6:n.142+9817C>T
ENST00000520016.5:c.142+9817C>T	ENSP00000430487.1:n.142+9817C>T
ENST00000520160.1:n.409+9817C>T
ENST00000521689.5:c.142+9817C>T	ENSP00000429977.1:n.142+9817C>T
ENST00000522025.6:c.-118+28813C>T	ENSP00000429010.1:n.-118+28813C>T
ENST00000523490.1:n.343+9817C>T
ENST00000524308.5:c.142+9817C>T	ENSP00000430221.1:n.142+9817C>T
NM_002380.3:c.142+9817C>T	NP_002371.3:n.142+9817C>T
NM_030583.2:c.142+9817C>T	NP_085072.2:n.142+9817C>T
XM_005250920.1:c.142+9817C>T	XP_005250977.1:n.142+9817C>T
XM_011517038.1:c.142+9817C>T	XP_011515340.1:n.142+9817C>T
NM_001317748.1:c.142+9817C>T	NP_001304677.1:n.142+9817C>T
NM_002380.4:c.142+9817C>T	NP_002371.3:n.142+9817C>T
NM_030583.3:c.142+9817C>T	NP_085072.2:n.142+9817C>T
XM_005250920.2:c.142+9817C>T	XP_005250977.1:n.142+9817C>T
XM_017013417.2:c.142+9817C>T	XP_016868906.1:n.142+9817C>T
XM_017013418.2:c.142+9817C>T	XP_016868907.1:n.142+9817C>T
NM_002380.5:c.142+9817C>T MANE Select	NP_002371.3:n.142+9817C>T
NM_001317748.2:c.142+9817C>T	NP_001304677.1:n.142+9817C>T
NM_030583.4:c.142+9817C>T	NP_085072.2:n.142+9817C>T