Canonical Allele Identifier: CA1543930

Gene: MATN3

Linked Data

• ClinVar Variation Id: 801652
• ClinVar RCV Id: RCV000986594 ; RCV002067572
• dbSNP Id: rs187943382
• ExAC: 2:20205636 A / G
• gnomAD v2: 2-20205636-A-G
• gnomAD v3: 2-20005875-A-G
• gnomAD v4: 2-20005875-A-G
• MyVariant Identifiers: chr2:g.20205636A>G (hg19) ; chr2:g.20005875A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005875A>G , CM000664.2:g.20005875A>G	GRCh38
NC_000002.11:g.20205636A>G , CM000664.1:g.20205636A>G	GRCh37
NC_000002.10:g.20069117A>G	NCBI36
NG_008087.1:g.11820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.659T>C MANE Select	ENSP00000383894.3:p.Val220Ala
ENST00000407540.7:c.659T>C	ENSP00000383894.3:p.Val220Ala
ENST00000421259.2:c.659T>C	ENSP00000398753.2:p.Val220Ala
NM_002381.4:c.659T>C	NP_002372.1:p.Val220Ala
NM_002381.5:c.659T>C MANE Select	NP_002372.1:p.Val220Ala