Canonical Allele Identifier: CA49696570
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs528819389
gnomAD v2: 2-71351214-C-T
gnomAD v3: 2-71124084-C-T
gnomAD v4: 2-71124084-C-T
MyVariant Identifiers: chr2:g.71351214C>T (hg19) chr2:g.71124084C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124084C>T , CM000664.2:g.71124084C>T GRCh38
NC_000002.11:g.71351214C>T , CM000664.1:g.71351214C>T GRCh37
NC_000002.10:g.71204722C>T NCBI36
NG_008977.1:g.11181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+122G>A MANE Select ENSP00000244217.5:n.378+122G>A
ENST00000244217.5:c.378+122G>A ENSP00000244217.5:n.378+122G>A
ENST00000413592.5:c.84+284G>A ENSP00000391140.1:n.84+284G>A
NM_032601.3:c.378+122G>A NP_115990.3:n.378+122G>A
XM_005264613.2:c.216+284G>A XP_005264670.1:n.216+284G>A
XR_939729.1:n.447+122G>A
XR_939729.2:n.447+122G>A
NM_032601.4:c.378+122G>A MANE Select NP_115990.3:n.378+122G>A
Search 100 bp 5'
Search 100 bp 3'