Canonical Allele Identifier: CA1543906
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015181
ClinVar RCV Id: RCV003870788
dbSNP Id: rs759213910
ExAC: 2:20205504 C / A
gnomAD v2: 2-20205504-C-A
gnomAD v3: 2-20005743-C-A
gnomAD v4: 2-20005743-C-A
MyVariant Identifiers: chr2:g.20205504C>A (hg19) chr2:g.20005743C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005743C>A , CM000664.2:g.20005743C>A GRCh38
NC_000002.11:g.20205504C>A , CM000664.1:g.20205504C>A GRCh37
NC_000002.10:g.20068985C>A NCBI36
NG_008087.1:g.11952G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+1G>T MANE Select ENSP00000383894.3:n.790+1G>T
ENST00000407540.7:c.790+1G>T ENSP00000383894.3:n.790+1G>T
ENST00000421259.2:c.790+1G>T ENSP00000398753.2:n.790+1G>T
NM_002381.4:c.790+1G>T NP_002372.1:n.790+1G>T
NM_002381.5:c.790+1G>T MANE Select NP_002372.1:n.790+1G>T
Search 100 bp 5'
Search 100 bp 3'