Canonical Allele Identifier: CA43398369
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs746327220
gnomAD v2: 2-20197925-A-G
gnomAD v3: 2-19998164-A-G
gnomAD v4: 2-19998164-A-G
MyVariant Identifiers: chr2:g.20197925A>G (hg19) chr2:g.19998164A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998164A>G , CM000664.2:g.19998164A>G GRCh38
NC_000002.11:g.20197925A>G , CM000664.1:g.20197925A>G GRCh37
NC_000002.10:g.20061406A>G NCBI36
NG_008087.1:g.19531T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-905T>C (MATN3) MANE Select ENSP00000383894.3:n.1169-905T>C
ENST00000407540.7:c.1169-905T>C (MATN3) ENSP00000383894.3:n.1169-905T>C
ENST00000421259.2:c.1043-905T>C (MATN3) ENSP00000398753.2:n.1043-905T>C
NM_002381.4:c.1169-905T>C (MATN3) NP_002372.1:n.1169-905T>C
NR_110235.1:n.292-1042A>G (WDR35-DT)
NM_002381.5:c.1169-905T>C (MATN3) MANE Select NP_002372.1:n.1169-905T>C
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