Canonical Allele Identifier: CA530995670
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1173925054
gnomAD v2: 2-20205820-C-CTGTTGACAAGGGTG
gnomAD v4: 2-20006059-C-CTGTTGACAAGGGTG
MyVariant Identifiers: chr2:g.20205820_20205821insTGTTGACAAGGGTG (hg19) chr2:g.20006059_20006060insTGTTGACAAGGGTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006062_20006075dup , CM000664.2:g.20006062_20006075dup GRCh38
NC_000002.11:g.20205823_20205836dup , CM000664.1:g.20205823_20205836dup GRCh37
NC_000002.10:g.20069304_20069317dup NCBI36
NG_008087.1:g.11622_11635dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.461_474dup MANE Select ENSP00000383894.3:p.Gly159HisfsTer11
ENST00000407540.7:c.461_474dup ENSP00000383894.3:p.Gly159HisfsTer11
ENST00000421259.2:c.461_474dup ENSP00000398753.2:p.Gly159HisfsTer11
NM_002381.4:c.461_474dup NP_002372.1:p.Gly159HisfsTer11
NM_002381.5:c.461_474dup MANE Select NP_002372.1:p.Gly159HisfsTer11
Search 100 bp 5'
Search 100 bp 3'