Canonical Allele Identifier: CA530853132
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1558374341
gnomAD v2: 2-20205478-GT-G
gnomAD v4: 2-20005717-GT-G
MyVariant Identifiers: chr2:g.20205479del (hg19) chr2:g.20005718del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005719del , CM000664.2:g.20005719del GRCh38
NC_000002.11:g.20205480del , CM000664.1:g.20205480del GRCh37
NC_000002.10:g.20068961del NCBI36
NG_008087.1:g.11977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+26del MANE Select ENSP00000383894.3:n.790+26del
ENST00000407540.7:c.790+26del ENSP00000383894.3:n.790+26del
ENST00000421259.2:c.790+26del ENSP00000398753.2:n.790+26del
NM_002381.4:c.790+26del NP_002372.1:n.790+26del
NM_002381.5:c.790+26del MANE Select NP_002372.1:n.790+26del
Search 100 bp 5'
Search 100 bp 3'