Canonical Allele Identifier: CA1543922
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs773830850
ExAC: 2:20205609 G / T
gnomAD v2: 2-20205609-G-T
gnomAD v4: 2-20005848-G-T
MyVariant Identifiers: chr2:g.20205609G>T (hg19) chr2:g.20005848G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005848G>T , CM000664.2:g.20005848G>T GRCh38
NC_000002.11:g.20205609G>T , CM000664.1:g.20205609G>T GRCh37
NC_000002.10:g.20069090G>T NCBI36
NG_008087.1:g.11847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.686C>A MANE Select ENSP00000383894.3:p.Ser229Tyr
ENST00000407540.7:c.686C>A ENSP00000383894.3:p.Ser229Tyr
ENST00000421259.2:c.686C>A ENSP00000398753.2:p.Ser229Tyr
NM_002381.4:c.686C>A NP_002372.1:p.Ser229Tyr
NM_002381.5:c.686C>A MANE Select NP_002372.1:p.Ser229Tyr
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