Canonical Allele Identifier: CA1902270
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1696341
ClinVar RCV Id: RCV002266486
dbSNP Id: rs766533747
ExAC: 2:150426622 C / T
gnomAD v2: 2-150426622-C-T
gnomAD v3: 2-149570108-C-T
gnomAD v4: 2-149570108-C-T
MyVariant Identifiers: chr2:g.150426622C>T (hg19) chr2:g.149570108C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570108C>T , CM000664.2:g.149570108C>T GRCh38
NC_000002.11:g.150426622C>T , CM000664.1:g.150426622C>T GRCh37
NC_000002.10:g.150134868C>T NCBI36
NG_009189.1:g.22709G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.757G>A MANE Select ENSP00000301920.5:p.Gly253Arg
ENST00000303319.9:c.757G>A ENSP00000301920.5:p.Gly253Arg
ENST00000422782.2:c.859G>A ENSP00000408331.2:p.Gly287Arg
ENST00000428879.5:c.757G>A ENSP00000389060.1:p.Gly253Arg
NM_015702.2:c.757G>A NP_056517.1:p.Gly253Arg
NM_015702.3:c.757G>A MANE Select NP_056517.1:p.Gly253Arg
Search 100 bp 5'
Search 100 bp 3'