Canonical Allele Identifier: CA254203
Gene: MATN3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.20005878G>T
GRCh37 chr2:g.20205639G>T
Revel Score:
ENST00000407540 (MANE Select) 0.914
ENST00000421259 0.914
gnomAD v2:
2:20205639 G / T
gnomAD v4:
chr2-20005878-G-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000007979
RCV002054424
ClinVar Variation:
7543
dbSNP:
28939677
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005878G>T , CM000664.2:g.20005878G>T GRCh38
NC_000002.11:g.20205639G>T , CM000664.1:g.20205639G>T GRCh37
NC_000002.10:g.20069120G>T NCBI36
NG_008087.1:g.11817C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.656C>A MANE Select ENSP00000383894.3:p.Ala219Asp
ENST00000407540.7:c.656C>A ENSP00000383894.3:p.Ala219Asp
ENST00000421259.2:c.656C>A ENSP00000398753.2:p.Ala219Asp
NM_002381.4:c.656C>A NP_002372.1:p.Ala219Asp
NM_002381.5:c.656C>A MANE Select NP_002372.1:p.Ala219Asp
Search 100 bp 5'
Search 100 bp 3'