Canonical Allele Identifier: CA345950508
Gene: MATN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.20205575C>G (hg19) chr2:g.20005814C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005814C>G , CM000664.2:g.20005814C>G GRCh38
NC_000002.11:g.20205575C>G , CM000664.1:g.20205575C>G GRCh37
NC_000002.10:g.20069056C>G NCBI36
NG_008087.1:g.11881G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.720G>C MANE Select ENSP00000383894.3:p.Glu240Asp
ENST00000407540.7:c.720G>C ENSP00000383894.3:p.Glu240Asp
ENST00000421259.2:c.720G>C ENSP00000398753.2:p.Glu240Asp
NM_002381.4:c.720G>C NP_002372.1:p.Glu240Asp
NM_002381.5:c.720G>C MANE Select NP_002372.1:p.Glu240Asp
Search 100 bp 5'
Search 100 bp 3'