Canonical Allele Identifier: CA345950364
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2889608
ClinVar RCV Id: RCV003720094
dbSNP Id: rs1673087803
gnomAD v4: 2-20005750-A-G
MyVariant Identifiers: chr2:g.20205511A>G (hg19) chr2:g.20005750A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005750A>G , CM000664.2:g.20005750A>G GRCh38
NC_000002.11:g.20205511A>G , CM000664.1:g.20205511A>G GRCh37
NC_000002.10:g.20068992A>G NCBI36
NG_008087.1:g.11945T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.784T>C MANE Select ENSP00000383894.3:p.Phe262Leu
ENST00000407540.7:c.784T>C ENSP00000383894.3:p.Phe262Leu
ENST00000421259.2:c.784T>C ENSP00000398753.2:p.Phe262Leu
NM_002381.4:c.784T>C NP_002372.1:p.Phe262Leu
NM_002381.5:c.784T>C MANE Select NP_002372.1:p.Phe262Leu
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