Canonical Allele Identifier: CA43403539
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347350
ClinVar RCV Id: RCV002041643
dbSNP Id: rs961591361
gnomAD v2: 2-20205538-T-C
gnomAD v3: 2-20005777-T-C
gnomAD v4: 2-20005777-T-C
MyVariant Identifiers: chr2:g.20205538T>C (hg19) chr2:g.20005777T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005777T>C , CM000664.2:g.20005777T>C GRCh38
NC_000002.11:g.20205538T>C , CM000664.1:g.20205538T>C GRCh37
NC_000002.10:g.20069019T>C NCBI36
NG_008087.1:g.11918A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.757A>G MANE Select ENSP00000383894.3:p.Lys253Glu
ENST00000407540.7:c.757A>G ENSP00000383894.3:p.Lys253Glu
ENST00000421259.2:c.757A>G ENSP00000398753.2:p.Lys253Glu
NM_002381.4:c.757A>G NP_002372.1:p.Lys253Glu
NM_002381.5:c.757A>G MANE Select NP_002372.1:p.Lys253Glu
Search 100 bp 5'
Search 100 bp 3'