Canonical Allele Identifier: CA530853128

Gene: MATN3

Linked Data

• dbSNP Id: rs147178840
• gnomAD v2: 2-20205367-G-GCACACA
• gnomAD v3: 2-20005606-G-GCACACA
• gnomAD v4: 2-20005606-G-GCACACA
• MyVariant Identifiers: chr2:g.20205367_20205368insCACACA (hg19) ; chr2:g.20005606_20005607insCACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005614_20005619dup , CM000664.2:g.20005614_20005619dup	GRCh38
NC_000002.11:g.20205375_20205380dup , CM000664.1:g.20205375_20205380dup	GRCh37
NC_000002.10:g.20068856_20068861dup	NCBI36
NG_008087.1:g.12083_12088dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+132_790+137dup MANE Select	ENSP00000383894.3:n.790+132_790+137dup
ENST00000407540.7:c.790+132_790+137dup	ENSP00000383894.3:n.790+132_790+137dup
ENST00000421259.2:c.790+132_790+137dup	ENSP00000398753.2:n.790+132_790+137dup
NM_002381.4:c.790+132_790+137dup	NP_002372.1:n.790+132_790+137dup
NM_002381.5:c.790+132_790+137dup MANE Select	NP_002372.1:n.790+132_790+137dup