Canonical Allele Identifier: CA1543933
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2650700
ClinVar RCV Id: RCV003425521
dbSNP Id: rs766686702
ExAC: 2:20205644 G / A
gnomAD v2: 2-20205644-G-A
gnomAD v3: 2-20005883-G-A
gnomAD v4: 2-20005883-G-A
MyVariant Identifiers: chr2:g.20205644G>A (hg19) chr2:g.20005883G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005883G>A , CM000664.2:g.20005883G>A GRCh38
NC_000002.11:g.20205644G>A , CM000664.1:g.20205644G>A GRCh37
NC_000002.10:g.20069125G>A NCBI36
NG_008087.1:g.11812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.651C>T MANE Select ENSP00000383894.3:p.Leu217=
ENST00000407540.7:c.651C>T ENSP00000383894.3:p.Leu217=
ENST00000421259.2:c.651C>T ENSP00000398753.2:p.Leu217=
NM_002381.4:c.651C>T NP_002372.1:p.Leu217=
NM_002381.5:c.651C>T MANE Select NP_002372.1:p.Leu217=
Search 100 bp 5'
Search 100 bp 3'