Canonical Allele Identifier: CA345950660
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005885-G-C
MyVariant Identifiers: chr2:g.20205646G>C (hg19) chr2:g.20005885G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005885G>C , CM000664.2:g.20005885G>C GRCh38
NC_000002.11:g.20205646G>C , CM000664.1:g.20205646G>C GRCh37
NC_000002.10:g.20069127G>C NCBI36
NG_008087.1:g.11810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.649C>G MANE Select ENSP00000383894.3:p.Leu217Val
ENST00000407540.7:c.649C>G ENSP00000383894.3:p.Leu217Val
ENST00000421259.2:c.649C>G ENSP00000398753.2:p.Leu217Val
NM_002381.4:c.649C>G NP_002372.1:p.Leu217Val
NM_002381.5:c.649C>G MANE Select NP_002372.1:p.Leu217Val
Search 100 bp 5'
Search 100 bp 3'