Canonical Allele Identifier: CA43403323

Gene: MATN3

Linked Data

• dbSNP Id: rs72538221
• gnomAD v4: 2-20005657-C-CAA
• MyVariant Identifiers: chr2:g.20205418_20205419insAA (hg19) ; chr2:g.20005657_20005658insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005662_20005663dup , CM000664.2:g.20005662_20005663dup	GRCh38
NC_000002.11:g.20205423_20205424dup , CM000664.1:g.20205423_20205424dup	GRCh37
NC_000002.10:g.20068904_20068905dup	NCBI36
NG_008087.1:g.12036_12037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+85_790+86dup MANE Select	ENSP00000383894.3:n.790+85_790+86dup
ENST00000407540.7:c.790+85_790+86dup	ENSP00000383894.3:n.790+85_790+86dup
ENST00000421259.2:c.790+85_790+86dup	ENSP00000398753.2:n.790+85_790+86dup
NM_002381.4:c.790+85_790+86dup	NP_002372.1:n.790+85_790+86dup
NM_002381.5:c.790+85_790+86dup MANE Select	NP_002372.1:n.790+85_790+86dup