Canonical Allele Identifier: CA1543914

Gene: MATN3

Linked Data

• ClinVar Variation Id: 898414
• ClinVar RCV Id: RCV001142259 ; RCV002557029
• dbSNP Id: rs182164052
• ExAC: 2:20205562 C / T
• gnomAD v2: 2-20205562-C-T
• gnomAD v3: 2-20005801-C-T
• gnomAD v4: 2-20005801-C-T
• MyVariant Identifiers: chr2:g.20205562C>T (hg19) ; chr2:g.20005801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005801C>T , CM000664.2:g.20005801C>T	GRCh38
NC_000002.11:g.20205562C>T , CM000664.1:g.20205562C>T	GRCh37
NC_000002.10:g.20069043C>T	NCBI36
NG_008087.1:g.11894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.733G>A MANE Select	ENSP00000383894.3:p.Val245Met
ENST00000407540.7:c.733G>A	ENSP00000383894.3:p.Val245Met
ENST00000421259.2:c.733G>A	ENSP00000398753.2:p.Val245Met
NM_002381.4:c.733G>A	NP_002372.1:p.Val245Met
NM_002381.5:c.733G>A MANE Select	NP_002372.1:p.Val245Met