Canonical Allele Identifier: CA1543911
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 258648
ClinVar RCV Id: RCV000242199 RCV000286603 RCV001511395 RCV002278176
dbSNP Id: rs52826764
ExAC: 2:20205541 C / T
gnomAD v2: 2-20205541-C-T
gnomAD v3: 2-20005780-C-T
gnomAD v4: 2-20005780-C-T
MyVariant Identifiers: chr2:g.20205541C>T (hg19) chr2:g.20005780C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005780C>T , CM000664.2:g.20005780C>T GRCh38
NC_000002.11:g.20205541C>T , CM000664.1:g.20205541C>T GRCh37
NC_000002.10:g.20069022C>T NCBI36
NG_008087.1:g.11915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.754G>A MANE Select ENSP00000383894.3:p.Glu252Lys
ENST00000407540.7:c.754G>A ENSP00000383894.3:p.Glu252Lys
ENST00000421259.2:c.754G>A ENSP00000398753.2:p.Glu252Lys
NM_002381.4:c.754G>A NP_002372.1:p.Glu252Lys
NM_002381.5:c.754G>A MANE Select NP_002372.1:p.Glu252Lys
Search 100 bp 5'
Search 100 bp 3'