Canonical Allele Identifier: CA345950580

Gene: MATN3

Linked Data

• MyVariant Identifiers: chr2:g.20205606A>T (hg19) ; chr2:g.20005845A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005845A>T , CM000664.2:g.20005845A>T	GRCh38
NC_000002.11:g.20205606A>T , CM000664.1:g.20205606A>T	GRCh37
NC_000002.10:g.20069087A>T	NCBI36
NG_008087.1:g.11850T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.689T>A MANE Select	ENSP00000383894.3:p.Leu230His
ENST00000407540.7:c.689T>A	ENSP00000383894.3:p.Leu230His
ENST00000421259.2:c.689T>A	ENSP00000398753.2:p.Leu230His
NM_002381.4:c.689T>A	NP_002372.1:p.Leu230His
NM_002381.5:c.689T>A MANE Select	NP_002372.1:p.Leu230His