Canonical Allele Identifier: CA425340823
Gene: MATN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.20205533A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005772A>T , CM000664.2:g.20005772A>T GRCh38
NC_000002.11:g.20205533A>T , CM000664.1:g.20205533A>T GRCh37
NC_000002.10:g.20069014A>T NCBI36
NG_008087.1:g.11923T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.762T>A MANE Select ENSP00000383894.3:p.Leu254=
ENST00000407540.7:c.762T>A ENSP00000383894.3:p.Leu254=
ENST00000421259.2:c.762T>A ENSP00000398753.2:p.Leu254=
NM_002381.4:c.762T>A NP_002372.1:p.Leu254=
NM_002381.5:c.762T>A MANE Select NP_002372.1:p.Leu254=
Search 100 bp 5'
Search 100 bp 3'