Canonical Allele Identifier: CA43403341
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1277469
ClinVar RCV Id: RCV001692626
dbSNP Id: rs3832086
gnomAD v2: 2-20205423-A-AAAAG
gnomAD v3: 2-20005662-A-AAAAG
gnomAD v4: 2-20005662-A-AAAAG
COSMIC: COSN18745517
MyVariant Identifiers: chr2:g.20205424_20205425insAAGA (hg19) chr2:g.20205423_20205424insAAAG (hg19) chr2:g.20005663_20005664insAAGA (hg38) chr2:g.20005662_20005663insAAAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005663_20005664insAAGA , CM000664.2:g.20005663_20005664insAAGA GRCh38
NC_000002.11:g.20205424_20205425insAAGA , CM000664.1:g.20205424_20205425insAAGA GRCh37
NC_000002.10:g.20068905_20068906insAAGA NCBI36
NG_008087.1:g.12032_12033insCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+81_790+82insCTTT MANE Select ENSP00000383894.3:n.790+81_790+82insCTTT
ENST00000407540.7:c.790+81_790+82insCTTT ENSP00000383894.3:n.790+81_790+82insCTTT
ENST00000421259.2:c.790+81_790+82insCTTT ENSP00000398753.2:n.790+81_790+82insCTTT
NM_002381.4:c.790+81_790+82insCTTT NP_002372.1:n.790+81_790+82insCTTT
NM_002381.5:c.790+81_790+82insCTTT MANE Select NP_002372.1:n.790+81_790+82insCTTT
Search 100 bp 5'
Search 100 bp 3'