Canonical Allele Identifier: CA1544010

Gene: MATN3

Linked Data

• ClinVar Variation Id: 283602
• ClinVar RCV Id: RCV000337716 ; RCV000353375 ; RCV000955908 ; RCV002521905
• dbSNP Id: rs573907581
• ExAC: 2:20212331 A / C
• gnomAD v2: 2-20212331-A-C
• gnomAD v3: 2-20012570-A-C
• gnomAD v4: 2-20012570-A-C
• MyVariant Identifiers: chr2:g.20212331A>C (hg19) ; chr2:g.20012570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20012570A>C , CM000664.2:g.20012570A>C	GRCh38
NC_000002.11:g.20212331A>C , CM000664.1:g.20212331A>C	GRCh37
NC_000002.10:g.20075812A>C	NCBI36
NG_008087.1:g.5125T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.62T>G MANE Select	ENSP00000383894.3:p.Leu21Arg
ENST00000407540.7:c.62T>G	ENSP00000383894.3:p.Leu21Arg
ENST00000421259.2:c.62T>G	ENSP00000398753.2:p.Leu21Arg
NM_002381.4:c.62T>G	NP_002372.1:p.Leu21Arg
NM_002381.5:c.62T>G MANE Select	NP_002372.1:p.Leu21Arg