Canonical Allele Identifier: CA1902244
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs772552592
ExAC: 2:150426497 A / T
gnomAD v2: 2-150426497-A-T
gnomAD v4: 2-149569983-A-T
MyVariant Identifiers: chr2:g.150426497A>T (hg19) chr2:g.149569983A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569983A>T , CM000664.2:g.149569983A>T GRCh38
NC_000002.11:g.150426497A>T , CM000664.1:g.150426497A>T GRCh37
NC_000002.10:g.150134743A>T NCBI36
NG_009189.1:g.22834T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.882T>A MANE Select ENSP00000301920.5:p.Ser294Arg
ENST00000303319.9:c.882T>A ENSP00000301920.5:p.Ser294Arg
ENST00000422782.2:c.984T>A ENSP00000408331.2:p.Ser328Arg
ENST00000428879.5:c.882T>A ENSP00000389060.1:p.Ser294Arg
NM_015702.2:c.882T>A NP_056517.1:p.Ser294Arg
NM_015702.3:c.882T>A MANE Select NP_056517.1:p.Ser294Arg
Search 100 bp 5'
Search 100 bp 3'