Canonical Allele Identifier: CA118876

Gene: MATN3 WDR35-DT

Linked Data

• ClinVar Variation Id: 7542
• ClinVar RCV Id: RCV000007978 ; RCV000318887 ; RCV000733135 ; RCV001522562 ; RCV002276539 ; RCV003904818
• dbSNP Id: rs77245812
• ExAC: 2:20202930 G / A
• gnomAD v2: 2-20202930-G-A
• gnomAD v3: 2-20003169-G-A
• gnomAD v4: 2-20003169-G-A
• MyVariant Identifiers: chr2:g.20202930G>A (hg19) ; chr2:g.20003169G>A (hg38)
• PubMed: PMID:12736871 ; PMID:16199550 ; PMID:16396979 ; PMID:17242023

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20003169G>A , CM000664.2:g.20003169G>A	GRCh38
NC_000002.11:g.20202930G>A , CM000664.1:g.20202930G>A	GRCh37
NC_000002.10:g.20066411G>A	NCBI36
NG_008087.1:g.14526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.908C>T (MATN3) MANE Select	ENSP00000383894.3:p.Thr303Met
ENST00000407540.7:c.908C>T (MATN3)	ENSP00000383894.3:p.Thr303Met
ENST00000421259.2:c.791-1089C>T (MATN3)	ENSP00000398753.2:n.791-1089C>T
NM_002381.4:c.908C>T (MATN3)	NP_002372.1:p.Thr303Met
NR_110235.1:n.364-851G>A (WDR35-DT)
NM_002381.5:c.908C>T (MATN3) MANE Select	NP_002372.1:p.Thr303Met