Canonical Allele Identifier: CA425341125
Gene: MATN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.20205767C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006006C>A , CM000664.2:g.20006006C>A GRCh38
NC_000002.11:g.20205767C>A , CM000664.1:g.20205767C>A GRCh37
NC_000002.10:g.20069248C>A NCBI36
NG_008087.1:g.11689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.528G>T MANE Select ENSP00000383894.3:p.Val176=
ENST00000407540.7:c.528G>T ENSP00000383894.3:p.Val176=
ENST00000421259.2:c.528G>T ENSP00000398753.2:p.Val176=
NM_002381.4:c.528G>T NP_002372.1:p.Val176=
NM_002381.5:c.528G>T MANE Select NP_002372.1:p.Val176=