Canonical Allele Identifier: CA1702598
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 1045912
ClinVar RCV Id: RCV001350396
dbSNP Id: rs779113206
ExAC: 2:71351338 C / T
gnomAD v2: 2-71351338-C-T
gnomAD v4: 2-71124208-C-T
COSMIC: COSM1022588
MyVariant Identifiers: chr2:g.71351338C>T (hg19) chr2:g.71124208C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124208C>T , CM000664.2:g.71124208C>T GRCh38
NC_000002.11:g.71351338C>T , CM000664.1:g.71351338C>T GRCh37
NC_000002.10:g.71204846C>T NCBI36
NG_008977.1:g.11057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.376G>A MANE Select ENSP00000244217.5:p.Glu126Lys
ENST00000244217.5:c.376G>A ENSP00000244217.5:p.Glu126Lys
ENST00000413592.5:c.84+160G>A ENSP00000391140.1:n.84+160G>A
ENST00000486135.1:c.91G>A ENSP00000441569.1:p.Glu31Lys
ENST00000494660.6:c.91G>A ENSP00000437361.1:p.Glu31Lys
NM_032601.3:c.376G>A NP_115990.3:p.Glu126Lys
XM_005264613.2:c.216+160G>A XP_005264670.1:n.216+160G>A
XR_939729.1:n.445G>A
XR_939729.2:n.445G>A
NM_032601.4:c.376G>A MANE Select NP_115990.3:p.Glu126Lys
Search 100 bp 5'
Search 100 bp 3'