Canonical Allele Identifier: CA1543983

Gene: MATN3

Linked Data

• ClinVar Variation Id: 333426
• ClinVar RCV Id: RCV000370747 ; RCV002523101
• dbSNP Id: rs563628955
• ExAC: 2:20205946 G / A
• gnomAD v2: 2-20205946-G-A
• gnomAD v3: 2-20006185-G-A
• gnomAD v4: 2-20006185-G-A
• COSMIC: COSM269553
• MyVariant Identifiers: chr2:g.20205946G>A (hg19) ; chr2:g.20006185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20006185G>A , CM000664.2:g.20006185G>A	GRCh38
NC_000002.11:g.20205946G>A , CM000664.1:g.20205946G>A	GRCh37
NC_000002.10:g.20069427G>A	NCBI36
NG_008087.1:g.11510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.349C>T MANE Select	ENSP00000383894.3:p.Pro117Ser
ENST00000407540.7:c.349C>T	ENSP00000383894.3:p.Pro117Ser
ENST00000421259.2:c.349C>T	ENSP00000398753.2:p.Pro117Ser
NM_002381.4:c.349C>T	NP_002372.1:p.Pro117Ser
NM_002381.5:c.349C>T MANE Select	NP_002372.1:p.Pro117Ser