Canonical Allele Identifier: CA49696572
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs377668979
gnomAD v4: 2-71124091-C-T
MyVariant Identifiers: chr2:g.71351221C>T (hg19) chr2:g.71124091C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124091C>T , CM000664.2:g.71124091C>T GRCh38
NC_000002.11:g.71351221C>T , CM000664.1:g.71351221C>T GRCh37
NC_000002.10:g.71204729C>T NCBI36
NG_008977.1:g.11174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+115G>A MANE Select ENSP00000244217.5:n.378+115G>A
ENST00000244217.5:c.378+115G>A ENSP00000244217.5:n.378+115G>A
ENST00000413592.5:c.84+277G>A ENSP00000391140.1:n.84+277G>A
NM_032601.3:c.378+115G>A NP_115990.3:n.378+115G>A
XM_005264613.2:c.216+277G>A XP_005264670.1:n.216+277G>A
XR_939729.1:n.447+115G>A
XR_939729.2:n.447+115G>A
NM_032601.4:c.378+115G>A MANE Select NP_115990.3:n.378+115G>A
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