Canonical Allele Identifier: CA345950460
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005794-G-A
MyVariant Identifiers: chr2:g.20205555G>A (hg19) chr2:g.20005794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005794G>A , CM000664.2:g.20005794G>A GRCh38
NC_000002.11:g.20205555G>A , CM000664.1:g.20205555G>A GRCh37
NC_000002.10:g.20069036G>A NCBI36
NG_008087.1:g.11901C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.740C>T MANE Select ENSP00000383894.3:p.Thr247Ile
ENST00000407540.7:c.740C>T ENSP00000383894.3:p.Thr247Ile
ENST00000421259.2:c.740C>T ENSP00000398753.2:p.Thr247Ile
NM_002381.4:c.740C>T NP_002372.1:p.Thr247Ile
NM_002381.5:c.740C>T MANE Select NP_002372.1:p.Thr247Ile
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