Canonical Allele Identifier: CA758703413
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1309183788
gnomAD v3: 2-149570145-GT-G
gnomAD v4: 2-149570145-GT-G
MyVariant Identifiers: chr2:g.150426660del (hg19) chr2:g.149570146del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570147del , CM000664.2:g.149570147del GRCh38
NC_000002.11:g.150426661del , CM000664.1:g.150426661del GRCh37
NC_000002.10:g.150134907del NCBI36
NG_009189.1:g.22671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.719del MANE Select ENSP00000301920.5:p.Asn240ThrfsTer13
ENST00000303319.9:c.719del ENSP00000301920.5:p.Asn240ThrfsTer13
ENST00000422782.2:c.821del ENSP00000408331.2:p.Asn274ThrfsTer13
ENST00000428879.5:c.719del ENSP00000389060.1:p.Asn240ThrfsTer13
NM_015702.2:c.719del NP_056517.1:p.Asn240ThrfsTer13
NM_015702.3:c.719del MANE Select NP_056517.1:p.Asn240ThrfsTer13
Search 100 bp 5'
Search 100 bp 3'