Canonical Allele Identifier: CA345950507
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1285767909
gnomAD v2: 2-20205575-C-A
gnomAD v4: 2-20005814-C-A
MyVariant Identifiers: chr2:g.20205575C>A (hg19) chr2:g.20005814C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005814C>A , CM000664.2:g.20005814C>A GRCh38
NC_000002.11:g.20205575C>A , CM000664.1:g.20205575C>A GRCh37
NC_000002.10:g.20069056C>A NCBI36
NG_008087.1:g.11881G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.720G>T MANE Select ENSP00000383894.3:p.Glu240Asp
ENST00000407540.7:c.720G>T ENSP00000383894.3:p.Glu240Asp
ENST00000421259.2:c.720G>T ENSP00000398753.2:p.Glu240Asp
NM_002381.4:c.720G>T NP_002372.1:p.Glu240Asp
NM_002381.5:c.720G>T MANE Select NP_002372.1:p.Glu240Asp
Search 100 bp 5'
Search 100 bp 3'