Canonical Allele Identifier: CA1702606
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 649586
ClinVar RCV Id: RCV000804557
dbSNP Id: rs6748672
ExAC: 2:71351403 C / T
gnomAD v2: 2-71351403-C-T
gnomAD v3: 2-71124273-C-T
gnomAD v4: 2-71124273-C-T
MyVariant Identifiers: chr2:g.71351403C>T (hg19) chr2:g.71124273C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124273C>T , CM000664.2:g.71124273C>T GRCh38
NC_000002.11:g.71351403C>T , CM000664.1:g.71351403C>T GRCh37
NC_000002.10:g.71204911C>T NCBI36
NG_008977.1:g.10992G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.311G>A MANE Select ENSP00000244217.5:p.Arg104His
ENST00000244217.5:c.311G>A ENSP00000244217.5:p.Arg104His
ENST00000413592.5:c.84+95G>A ENSP00000391140.1:n.84+95G>A
ENST00000486135.1:c.26G>A ENSP00000441569.1:p.Arg9His
ENST00000494660.6:c.26G>A ENSP00000437361.1:p.Arg9His
NM_032601.3:c.311G>A NP_115990.3:p.Arg104His
XM_005264613.2:c.216+95G>A XP_005264670.1:n.216+95G>A
XR_939729.1:n.380G>A
XR_939729.2:n.380G>A
NM_032601.4:c.311G>A MANE Select NP_115990.3:p.Arg104His
Search 100 bp 5'
Search 100 bp 3'