Canonical Allele Identifier: CA49696387
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs72903576
gnomAD v2: 2-71351074-C-T
gnomAD v3: 2-71123944-C-T
gnomAD v4: 2-71123944-C-T
MyVariant Identifiers: chr2:g.71351074C>T (hg19) chr2:g.71123944C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123944C>T , CM000664.2:g.71123944C>T GRCh38
NC_000002.11:g.71351074C>T , CM000664.1:g.71351074C>T GRCh37
NC_000002.10:g.71204582C>T NCBI36
NG_008977.1:g.11321G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+262G>A MANE Select ENSP00000244217.5:n.378+262G>A
ENST00000244217.5:c.378+262G>A ENSP00000244217.5:n.378+262G>A
ENST00000413592.5:c.84+424G>A ENSP00000391140.1:n.84+424G>A
NM_032601.3:c.378+262G>A NP_115990.3:n.378+262G>A
XM_005264613.2:c.216+424G>A XP_005264670.1:n.216+424G>A
XR_939729.1:n.447+262G>A
XR_939729.2:n.447+262G>A
NM_032601.4:c.378+262G>A MANE Select NP_115990.3:n.378+262G>A
Search 100 bp 5'
Search 100 bp 3'