Canonical Allele Identifier: CA1902275
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 618213
ClinVar RCV Id: RCV000756344 RCV001835948
dbSNP Id: rs544727246
ExAC: 2:150426637 G / A
gnomAD v2: 2-150426637-G-A
gnomAD v3: 2-149570123-G-A
gnomAD v4: 2-149570123-G-A
MyVariant Identifiers: chr2:g.150426637G>A (hg19) chr2:g.149570123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570123G>A , CM000664.2:g.149570123G>A GRCh38
NC_000002.11:g.150426637G>A , CM000664.1:g.150426637G>A GRCh37
NC_000002.10:g.150134883G>A NCBI36
NG_009189.1:g.22694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.742C>T MANE Select ENSP00000301920.5:p.Arg248Cys
ENST00000303319.9:c.742C>T ENSP00000301920.5:p.Arg248Cys
ENST00000422782.2:c.844C>T ENSP00000408331.2:p.Arg282Cys
ENST00000428879.5:c.742C>T ENSP00000389060.1:p.Arg248Cys
NM_015702.2:c.742C>T NP_056517.1:p.Arg248Cys
NM_015702.3:c.742C>T MANE Select NP_056517.1:p.Arg248Cys
Search 100 bp 5'
Search 100 bp 3'