Canonical Allele Identifier: CA43403576
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs773422621
MyVariant Identifiers: chr2:g.20205595C>T (hg19) chr2:g.20005834C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005834C>T , CM000664.2:g.20005834C>T GRCh38
NC_000002.11:g.20205595C>T , CM000664.1:g.20205595C>T GRCh37
NC_000002.10:g.20069076C>T NCBI36
NG_008087.1:g.11861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.700G>A MANE Select ENSP00000383894.3:p.Ala234Thr
ENST00000407540.7:c.700G>A ENSP00000383894.3:p.Ala234Thr
ENST00000421259.2:c.700G>A ENSP00000398753.2:p.Ala234Thr
NM_002381.4:c.700G>A NP_002372.1:p.Ala234Thr
NM_002381.5:c.700G>A MANE Select NP_002372.1:p.Ala234Thr
Search 100 bp 5'
Search 100 bp 3'