Canonical Allele Identifier: CA345950673

Gene: MATN3

Linked Data

• MyVariant Identifiers: chr2:g.20205652T>G (hg19) ; chr2:g.20005891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005891T>G , CM000664.2:g.20005891T>G	GRCh38
NC_000002.11:g.20205652T>G , CM000664.1:g.20205652T>G	GRCh37
NC_000002.10:g.20069133T>G	NCBI36
NG_008087.1:g.11804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.643A>C MANE Select	ENSP00000383894.3:p.Ile215Leu
ENST00000407540.7:c.643A>C	ENSP00000383894.3:p.Ile215Leu
ENST00000421259.2:c.643A>C	ENSP00000398753.2:p.Ile215Leu
NM_002381.4:c.643A>C	NP_002372.1:p.Ile215Leu
NM_002381.5:c.643A>C MANE Select	NP_002372.1:p.Ile215Leu