Canonical Allele Identifier: CA345950451
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005789-C-T
MyVariant Identifiers: chr2:g.20205550C>T (hg19) chr2:g.20005789C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005789C>T , CM000664.2:g.20005789C>T GRCh38
NC_000002.11:g.20205550C>T , CM000664.1:g.20205550C>T GRCh37
NC_000002.10:g.20069031C>T NCBI36
NG_008087.1:g.11906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.745G>A MANE Select ENSP00000383894.3:p.Gly249Arg
ENST00000407540.7:c.745G>A ENSP00000383894.3:p.Gly249Arg
ENST00000421259.2:c.745G>A ENSP00000398753.2:p.Gly249Arg
NM_002381.4:c.745G>A NP_002372.1:p.Gly249Arg
NM_002381.5:c.745G>A MANE Select NP_002372.1:p.Gly249Arg
Search 100 bp 5'
Search 100 bp 3'