Canonical Allele Identifier: CA426689340
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 2178090
ClinVar RCV Id: RCV002614778
dbSNP Id: rs1239227111
gnomAD v2: 2-71351345-G-A
gnomAD v4: 2-71124215-G-A
MyVariant Identifiers: chr2:g.71351345G>A (hg19) chr2:g.71124215G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124215G>A , CM000664.2:g.71124215G>A GRCh38
NC_000002.11:g.71351345G>A , CM000664.1:g.71351345G>A GRCh37
NC_000002.10:g.71204853G>A NCBI36
NG_008977.1:g.11050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.369C>T MANE Select ENSP00000244217.5:p.Ile123=
ENST00000244217.5:c.369C>T ENSP00000244217.5:p.Ile123=
ENST00000413592.5:c.84+153C>T ENSP00000391140.1:n.84+153C>T
ENST00000486135.1:c.84C>T ENSP00000441569.1:p.Ile28=
ENST00000494660.6:c.84C>T ENSP00000437361.1:p.Ile28=
NM_032601.3:c.369C>T NP_115990.3:p.Ile123=
XM_005264613.2:c.216+153C>T XP_005264670.1:n.216+153C>T
XR_939729.1:n.438C>T
XR_939729.2:n.438C>T
NM_032601.4:c.369C>T MANE Select NP_115990.3:p.Ile123=
Search 100 bp 5'
Search 100 bp 3'