Canonical Allele Identifier: CA1543930
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 801652
ClinVar RCV Id: RCV000986594 RCV002067572
dbSNP Id: rs187943382
ExAC: 2:20205636 A / G
gnomAD v2: 2-20205636-A-G
gnomAD v3: 2-20005875-A-G
gnomAD v4: 2-20005875-A-G
MyVariant Identifiers: chr2:g.20205636A>G (hg19) chr2:g.20005875A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005875A>G , CM000664.2:g.20005875A>G GRCh38
NC_000002.11:g.20205636A>G , CM000664.1:g.20205636A>G GRCh37
NC_000002.10:g.20069117A>G NCBI36
NG_008087.1:g.11820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.659T>C MANE Select ENSP00000383894.3:p.Val220Ala
ENST00000407540.7:c.659T>C ENSP00000383894.3:p.Val220Ala
ENST00000421259.2:c.659T>C ENSP00000398753.2:p.Val220Ala
NM_002381.4:c.659T>C NP_002372.1:p.Val220Ala
NM_002381.5:c.659T>C MANE Select NP_002372.1:p.Val220Ala
Search 100 bp 5'
Search 100 bp 3'