Canonical Allele Identifier: CA43398440
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs1055411062
MyVariant Identifiers: chr2:g.20198041C>T (hg19) chr2:g.19998280C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998280C>T , CM000664.2:g.19998280C>T GRCh38
NC_000002.11:g.20198041C>T , CM000664.1:g.20198041C>T GRCh37
NC_000002.10:g.20061522C>T NCBI36
NG_008087.1:g.19415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-1021G>A (MATN3) MANE Select ENSP00000383894.3:n.1169-1021G>A
ENST00000407540.7:c.1169-1021G>A (MATN3) ENSP00000383894.3:n.1169-1021G>A
ENST00000421259.2:c.1043-1021G>A (MATN3) ENSP00000398753.2:n.1043-1021G>A
NM_002381.4:c.1169-1021G>A (MATN3) NP_002372.1:n.1169-1021G>A
NR_110235.1:n.292-926C>T (WDR35-DT)
NM_002381.5:c.1169-1021G>A (MATN3) MANE Select NP_002372.1:n.1169-1021G>A
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