Canonical Allele Identifier: CA1543935
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 747791
ClinVar RCV Id: RCV000924532
dbSNP Id: rs756538311
ExAC: 2:20205659 T / C
gnomAD v2: 2-20205659-T-C
gnomAD v3: 2-20005898-T-C
gnomAD v4: 2-20005898-T-C
MyVariant Identifiers: chr2:g.20205659T>C (hg19) chr2:g.20005898T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005898T>C , CM000664.2:g.20005898T>C GRCh38
NC_000002.11:g.20205659T>C , CM000664.1:g.20205659T>C GRCh37
NC_000002.10:g.20069140T>C NCBI36
NG_008087.1:g.11797A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.636A>G MANE Select ENSP00000383894.3:p.Ala212=
ENST00000407540.7:c.636A>G ENSP00000383894.3:p.Ala212=
ENST00000421259.2:c.636A>G ENSP00000398753.2:p.Ala212=
NM_002381.4:c.636A>G NP_002372.1:p.Ala212=
NM_002381.5:c.636A>G MANE Select NP_002372.1:p.Ala212=
Search 100 bp 5'
Search 100 bp 3'