Canonical Allele Identifier: CA1543899
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs748649427
ExAC: 2:20205478 G / A
gnomAD v2: 2-20205478-G-A
gnomAD v4: 2-20005717-G-A
MyVariant Identifiers: chr2:g.20205478G>A (hg19) chr2:g.20205478_20205479delinsAT (hg19) chr2:g.20005717G>A (hg38) chr2:g.20005717_20005718delinsAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005717G>A , CM000664.2:g.20005717G>A GRCh38
NC_000002.11:g.20205478G>A , CM000664.1:g.20205478G>A GRCh37
NC_000002.10:g.20068959G>A NCBI36
NG_008087.1:g.11978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+27C>T MANE Select ENSP00000383894.3:n.790+27C>T
ENST00000407540.7:c.790+27C>T ENSP00000383894.3:n.790+27C>T
ENST00000421259.2:c.790+27C>T ENSP00000398753.2:n.790+27C>T
NM_002381.4:c.790+27C>T NP_002372.1:n.790+27C>T
NM_002381.5:c.790+27C>T MANE Select NP_002372.1:n.790+27C>T
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