Canonical Allele Identifier: CA763243822

Gene: MATN3

Linked Data

• dbSNP Id: rs1248582605
• gnomAD v4: 2-20005652-T-TCCA
• MyVariant Identifiers: chr2:g.20205413_20205414insCCA (hg19) ; chr2:g.20005652_20005653insCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005656_20005658dup , CM000664.2:g.20005656_20005658dup	GRCh38
NC_000002.11:g.20205417_20205419dup , CM000664.1:g.20205417_20205419dup	GRCh37
NC_000002.10:g.20068898_20068900dup	NCBI36
NG_008087.1:g.12040_12042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+89_790+91dup MANE Select	ENSP00000383894.3:n.790+89_790+91dup
ENST00000407540.7:c.790+89_790+91dup	ENSP00000383894.3:n.790+89_790+91dup
ENST00000421259.2:c.790+89_790+91dup	ENSP00000398753.2:n.790+89_790+91dup
NM_002381.4:c.790+89_790+91dup	NP_002372.1:n.790+89_790+91dup
NM_002381.5:c.790+89_790+91dup MANE Select	NP_002372.1:n.790+89_790+91dup