Canonical Allele Identifier: CA345951051

Gene: MATN3

Linked Data

• MyVariant Identifiers: chr2:g.20205838T>C (hg19) ; chr2:g.20006077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20006077T>C , CM000664.2:g.20006077T>C	GRCh38
NC_000002.11:g.20205838T>C , CM000664.1:g.20205838T>C	GRCh37
NC_000002.10:g.20069319T>C	NCBI36
NG_008087.1:g.11618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.457A>G MANE Select	ENSP00000383894.3:p.Ile153Val
ENST00000407540.7:c.457A>G	ENSP00000383894.3:p.Ile153Val
ENST00000421259.2:c.457A>G	ENSP00000398753.2:p.Ile153Val
NM_002381.4:c.457A>G	NP_002372.1:p.Ile153Val
NM_002381.5:c.457A>G MANE Select	NP_002372.1:p.Ile153Val