Canonical Allele Identifier: CA345950735
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v4: 2-20005923-T-C
MyVariant Identifiers: chr2:g.20205684T>C (hg19) chr2:g.20005923T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005923T>C , CM000664.2:g.20005923T>C GRCh38
NC_000002.11:g.20205684T>C , CM000664.1:g.20205684T>C GRCh37
NC_000002.10:g.20069165T>C NCBI36
NG_008087.1:g.11772A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.611A>G MANE Select ENSP00000383894.3:p.Asn204Ser
ENST00000407540.7:c.611A>G ENSP00000383894.3:p.Asn204Ser
ENST00000421259.2:c.611A>G ENSP00000398753.2:p.Asn204Ser
NM_002381.4:c.611A>G NP_002372.1:p.Asn204Ser
NM_002381.5:c.611A>G MANE Select NP_002372.1:p.Asn204Ser
Search 100 bp 5'
Search 100 bp 3'