Canonical Allele Identifier: CA530853134
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1283789166
gnomAD v2: 2-20205499-A-C
MyVariant Identifiers: chr2:g.20205499A>C (hg19) chr2:g.20005738A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005738A>C , CM000664.2:g.20005738A>C GRCh38
NC_000002.11:g.20205499A>C , CM000664.1:g.20205499A>C GRCh37
NC_000002.10:g.20068980A>C NCBI36
NG_008087.1:g.11957T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+6T>G MANE Select ENSP00000383894.3:n.790+6T>G
ENST00000407540.7:c.790+6T>G ENSP00000383894.3:n.790+6T>G
ENST00000421259.2:c.790+6T>G ENSP00000398753.2:n.790+6T>G
NM_002381.4:c.790+6T>G NP_002372.1:n.790+6T>G
NM_002381.5:c.790+6T>G MANE Select NP_002372.1:n.790+6T>G
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