Canonical Allele Identifier: CA763243874

Gene: MATN3

Linked Data

• dbSNP Id: rs1451414043
• MyVariant Identifiers: chr2:g.20205490_20205493del (hg19) ; chr2:g.20005729_20005732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005732_20005735del , CM000664.2:g.20005732_20005735del	GRCh38
NC_000002.11:g.20205493_20205496del , CM000664.1:g.20205493_20205496del	GRCh37
NC_000002.10:g.20068974_20068977del	NCBI36
NG_008087.1:g.11963_11966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+12_790+15del MANE Select	ENSP00000383894.3:n.790+12_790+15del
ENST00000407540.7:c.790+12_790+15del	ENSP00000383894.3:n.790+12_790+15del
ENST00000421259.2:c.790+12_790+15del	ENSP00000398753.2:n.790+12_790+15del
NM_002381.4:c.790+12_790+15del	NP_002372.1:n.790+12_790+15del
NM_002381.5:c.790+12_790+15del MANE Select	NP_002372.1:n.790+12_790+15del