Canonical Allele Identifier: CA345950781
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005942-T-C
MyVariant Identifiers: chr2:g.20205703T>C (hg19) chr2:g.20005942T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005942T>C , CM000664.2:g.20005942T>C GRCh38
NC_000002.11:g.20205703T>C , CM000664.1:g.20205703T>C GRCh37
NC_000002.10:g.20069184T>C NCBI36
NG_008087.1:g.11753A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.592A>G MANE Select ENSP00000383894.3:p.Arg198Gly
ENST00000407540.7:c.592A>G ENSP00000383894.3:p.Arg198Gly
ENST00000421259.2:c.592A>G ENSP00000398753.2:p.Arg198Gly
NM_002381.4:c.592A>G NP_002372.1:p.Arg198Gly
NM_002381.5:c.592A>G MANE Select NP_002372.1:p.Arg198Gly
Search 100 bp 5'
Search 100 bp 3'