Canonical Allele Identifier: CA530853126
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs570227171
gnomAD v2: 2-20205365-G-C
gnomAD v3: 2-20005604-G-C
gnomAD v4: 2-20005604-G-C
MyVariant Identifiers: chr2:g.20205365G>C (hg19) chr2:g.20005604G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005604G>C , CM000664.2:g.20005604G>C GRCh38
NC_000002.11:g.20205365G>C , CM000664.1:g.20205365G>C GRCh37
NC_000002.10:g.20068846G>C NCBI36
NG_008087.1:g.12091C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+140C>G MANE Select ENSP00000383894.3:n.790+140C>G
ENST00000407540.7:c.790+140C>G ENSP00000383894.3:n.790+140C>G
ENST00000421259.2:c.790+140C>G ENSP00000398753.2:n.790+140C>G
NM_002381.4:c.790+140C>G NP_002372.1:n.790+140C>G
NM_002381.5:c.790+140C>G MANE Select NP_002372.1:n.790+140C>G
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