Canonical Allele Identifier: CA425339848
Gene: MATN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.20205836G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006075G>T , CM000664.2:g.20006075G>T GRCh38
NC_000002.11:g.20205836G>T , CM000664.1:g.20205836G>T GRCh37
NC_000002.10:g.20069317G>T NCBI36
NG_008087.1:g.11620C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.459C>A MANE Select ENSP00000383894.3:p.Ile153=
ENST00000407540.7:c.459C>A ENSP00000383894.3:p.Ile153=
ENST00000421259.2:c.459C>A ENSP00000398753.2:p.Ile153=
NM_002381.4:c.459C>A NP_002372.1:p.Ile153=
NM_002381.5:c.459C>A MANE Select NP_002372.1:p.Ile153=