Canonical Allele Identifier: CA340687

Gene: MATN3

Linked Data

• ClinVar Variation Id: 7541
• ClinVar RCV Id: RCV000007977 ; RCV001093349 ; RCV002054423
• dbSNP Id: rs104893637
• gnomAD v4: 2-20006173-G-A
• MyVariant Identifiers: chr2:g.20205934G>A (hg19) ; chr2:g.20006173G>A (hg38)
• PubMed: PMID:11479597 ; PMID:14729835 ; PMID:20301302 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20006173G>A , CM000664.2:g.20006173G>A	GRCh38
NC_000002.11:g.20205934G>A , CM000664.1:g.20205934G>A	GRCh37
NC_000002.10:g.20069415G>A	NCBI36
NG_008087.1:g.11522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.361C>T MANE Select	ENSP00000383894.3:p.Arg121Trp
ENST00000407540.7:c.361C>T	ENSP00000383894.3:p.Arg121Trp
ENST00000421259.2:c.361C>T	ENSP00000398753.2:p.Arg121Trp
NM_002381.4:c.361C>T	NP_002372.1:p.Arg121Trp
NM_002381.5:c.361C>T MANE Select	NP_002372.1:p.Arg121Trp