Canonical Allele Identifier: CA763243812
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1410032644
gnomAD v3: 2-20005618-A-G
gnomAD v4: 2-20005618-A-G
MyVariant Identifiers: chr2:g.20205379A>G (hg19) chr2:g.20005618A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005618A>G , CM000664.2:g.20005618A>G GRCh38
NC_000002.11:g.20205379A>G , CM000664.1:g.20205379A>G GRCh37
NC_000002.10:g.20068860A>G NCBI36
NG_008087.1:g.12077T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+126T>C MANE Select ENSP00000383894.3:n.790+126T>C
ENST00000407540.7:c.790+126T>C ENSP00000383894.3:n.790+126T>C
ENST00000421259.2:c.790+126T>C ENSP00000398753.2:n.790+126T>C
NM_002381.4:c.790+126T>C NP_002372.1:n.790+126T>C
NM_002381.5:c.790+126T>C MANE Select NP_002372.1:n.790+126T>C
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