Canonical Allele Identifier: CA345950658

Gene: MATN3

Linked Data

• MyVariant Identifiers: chr2:g.20205646G>A (hg19) ; chr2:g.20005885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005885G>A , CM000664.2:g.20005885G>A	GRCh38
NC_000002.11:g.20205646G>A , CM000664.1:g.20205646G>A	GRCh37
NC_000002.10:g.20069127G>A	NCBI36
NG_008087.1:g.11810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.649C>T MANE Select	ENSP00000383894.3:p.Leu217Phe
ENST00000407540.7:c.649C>T	ENSP00000383894.3:p.Leu217Phe
ENST00000421259.2:c.649C>T	ENSP00000398753.2:p.Leu217Phe
NM_002381.4:c.649C>T	NP_002372.1:p.Leu217Phe
NM_002381.5:c.649C>T MANE Select	NP_002372.1:p.Leu217Phe