Canonical Allele Identifier: CA763239020
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs1390194734
gnomAD v3: 2-19998302-G-A
gnomAD v4: 2-19998302-G-A
MyVariant Identifiers: chr2:g.20198063G>A (hg19) chr2:g.19998302G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998302G>A , CM000664.2:g.19998302G>A GRCh38
NC_000002.11:g.20198063G>A , CM000664.1:g.20198063G>A GRCh37
NC_000002.10:g.20061544G>A NCBI36
NG_008087.1:g.19393C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000407540.8:c.1169-1043C>T (MATN3) MANE Select ENSP00000383894.3:n.1169-1043C>T
ENST00000407540.7:c.1169-1043C>T (MATN3) ENSP00000383894.3:n.1169-1043C>T
ENST00000421259.2:c.1043-1043C>T (MATN3) ENSP00000398753.2:n.1043-1043C>T
NM_002381.4:c.1169-1043C>T (MATN3) NP_002372.1:n.1169-1043C>T
NR_110235.1:n.292-904G>A (WDR35-DT)
NM_002381.5:c.1169-1043C>T (MATN3) MANE Select NP_002372.1:n.1169-1043C>T
Search 100 bp 5'
Search 100 bp 3'