Canonical Allele Identifier: CA58332330
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs931588481
gnomAD v3: 2-149569699-T-TAAAG
gnomAD v4: 2-149569699-T-TAAAG
MyVariant Identifiers: chr2:g.150426213_150426214insAAAG (hg19) chr2:g.149569699_149569700insAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569701_149569704dup , CM000664.2:g.149569701_149569704dup GRCh38
NC_000002.11:g.150426215_150426218dup , CM000664.1:g.150426215_150426218dup GRCh37
NC_000002.10:g.150134461_150134464dup NCBI36
NG_009189.1:g.23114_23117dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*271_*274dup MANE Select ENSP00000301920.5:n.*271_*274dup
ENST00000303319.9:c.*271_*274dup ENSP00000301920.5:n.*271_*274dup
ENST00000422782.2:c.*271_*274dup ENSP00000408331.2:n.*271_*274dup
ENST00000428879.5:c.*271_*274dup ENSP00000389060.1:n.*271_*274dup
NM_015702.2:c.*271_*274dup NP_056517.1:n.*271_*274dup
NM_015702.3:c.*271_*274dup MANE Select NP_056517.1:n.*271_*274dup
Search 100 bp 5'
Search 100 bp 3'