Canonical Allele Identifier: CA425341080
Gene: MATN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.20205710T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005949T>A , CM000664.2:g.20005949T>A GRCh38
NC_000002.11:g.20205710T>A , CM000664.1:g.20205710T>A GRCh37
NC_000002.10:g.20069191T>A NCBI36
NG_008087.1:g.11746A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.585A>T MANE Select ENSP00000383894.3:p.Thr195=
ENST00000407540.7:c.585A>T ENSP00000383894.3:p.Thr195=
ENST00000421259.2:c.585A>T ENSP00000398753.2:p.Thr195=
NM_002381.4:c.585A>T NP_002372.1:p.Thr195=
NM_002381.5:c.585A>T MANE Select NP_002372.1:p.Thr195=
Search 100 bp 5'
Search 100 bp 3'