Canonical Allele Identifier: CA254204

Gene: MATN3

Linked Data

• ClinVar Variation Id: 7545
• ClinVar RCV Id: RCV000007981 ; RCV001314030 ; RCV002054425
• dbSNP Id: rs104893640
• gnomAD v2: 2-20212184-C-T
• gnomAD v3: 2-20012423-C-T
• gnomAD v4: 2-20012423-C-T
• MyVariant Identifiers: chr2:g.20212184C>T (hg19) ; chr2:g.20012423C>T (hg38)
• PubMed: PMID:15948199 ; PMID:20301302

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20012423C>T , CM000664.2:g.20012423C>T	GRCh38
NC_000002.11:g.20212184C>T , CM000664.1:g.20212184C>T	GRCh37
NC_000002.10:g.20075665C>T	NCBI36
NG_008087.1:g.5272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.209G>A MANE Select	ENSP00000383894.3:p.Arg70His
ENST00000407540.7:c.209G>A	ENSP00000383894.3:p.Arg70His
ENST00000421259.2:c.209G>A	ENSP00000398753.2:p.Arg70His
NM_002381.4:c.209G>A	NP_002372.1:p.Arg70His
NM_002381.5:c.209G>A MANE Select	NP_002372.1:p.Arg70His