Canonical Allele Identifier: CA345950745
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1285720740
gnomAD v2: 2-20205688-C-T
gnomAD v4: 2-20005927-C-T
MyVariant Identifiers: chr2:g.20205688C>T (hg19) chr2:g.20005927C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005927C>T , CM000664.2:g.20005927C>T GRCh38
NC_000002.11:g.20205688C>T , CM000664.1:g.20205688C>T GRCh37
NC_000002.10:g.20069169C>T NCBI36
NG_008087.1:g.11768G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.607G>A MANE Select ENSP00000383894.3:p.Val203Met
ENST00000407540.7:c.607G>A ENSP00000383894.3:p.Val203Met
ENST00000421259.2:c.607G>A ENSP00000398753.2:p.Val203Met
NM_002381.4:c.607G>A NP_002372.1:p.Val203Met
NM_002381.5:c.607G>A MANE Select NP_002372.1:p.Val203Met
Search 100 bp 5'
Search 100 bp 3'