Canonical Allele Identifier: CA1543905
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980948
ClinVar RCV Id: RCV002751128
dbSNP Id: rs769937419
ExAC: 2:20205504 C / CCA
gnomAD v2: 2-20205504-C-CCA
gnomAD v3: 2-20005743-C-CCA
gnomAD v4: 2-20005743-C-CCA
MyVariant Identifiers: chr2:g.20205504_20205505insCA (hg19) chr2:g.20005743_20005744insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005746_20005747dup , CM000664.2:g.20005746_20005747dup GRCh38
NC_000002.11:g.20205507_20205508dup , CM000664.1:g.20205507_20205508dup GRCh37
NC_000002.10:g.20068988_20068989dup NCBI36
NG_008087.1:g.11950_11951dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.789_790dup MANE Select ENSP00000383894.3:p.Ala264ValfsTer?
ENST00000407540.7:c.789_790dup ENSP00000383894.3:p.Ala264ValfsTer?
ENST00000421259.2:c.789_790dup ENSP00000398753.2:p.Ala264ValfsTer18
NM_002381.4:c.789_790dup NP_002372.1:p.Ala264ValfsTer?
NM_002381.5:c.789_790dup MANE Select NP_002372.1:p.Ala264ValfsTer?
Search 100 bp 5'
Search 100 bp 3'