Canonical Allele Identifier: CA425340822
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005772-A-G
MyVariant Identifiers: chr2:g.20205533A>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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