Canonical Allele Identifier: CA203278
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 198148
ClinVar RCV Id: RCV000179406 RCV000353806 RCV001516839 RCV002277421
dbSNP Id: rs149849256
ExAC: 2:20197030 C / T
gnomAD v2: 2-20197030-C-T
gnomAD v3: 2-19997269-C-T
gnomAD v4: 2-19997269-C-T
MyVariant Identifiers: chr2:g.20197030C>T (hg19) chr2:g.19997269C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19997269C>T , CM000664.2:g.19997269C>T GRCh38
NC_000002.11:g.20197030C>T , CM000664.1:g.20197030C>T GRCh37
NC_000002.10:g.20060511C>T NCBI36
NG_008087.1:g.20426G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-10G>A (MATN3) MANE Select ENSP00000383894.3:n.1169-10G>A
ENST00000407540.7:c.1169-10G>A (MATN3) ENSP00000383894.3:n.1169-10G>A
ENST00000421259.2:c.1043-10G>A (MATN3) ENSP00000398753.2:n.1043-10G>A
ENST00000478482.1:n.585G>A (MATN3)
NM_002381.4:c.1169-10G>A (MATN3) NP_002372.1:n.1169-10G>A
NR_110235.1:n.292-1937C>T (WDR35-DT)
NM_002381.5:c.1169-10G>A (MATN3) MANE Select NP_002372.1:n.1169-10G>A
Search 100 bp 5'
Search 100 bp 3'