Canonical Allele Identifier: CA49696560
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 1321473
ClinVar RCV Id: RCV001779565
dbSNP Id: rs6748616
gnomAD v2: 2-71351205-G-A
gnomAD v3: 2-71124075-G-A
gnomAD v4: 2-71124075-G-A
MyVariant Identifiers: chr2:g.71351205G>A (hg19) chr2:g.71124075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124075G>A , CM000664.2:g.71124075G>A GRCh38
NC_000002.11:g.71351205G>A , CM000664.1:g.71351205G>A GRCh37
NC_000002.10:g.71204713G>A NCBI36
NG_008977.1:g.11190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+131C>T MANE Select ENSP00000244217.5:n.378+131C>T
ENST00000244217.5:c.378+131C>T ENSP00000244217.5:n.378+131C>T
ENST00000413592.5:c.84+293C>T ENSP00000391140.1:n.84+293C>T
NM_032601.3:c.378+131C>T NP_115990.3:n.378+131C>T
XM_005264613.2:c.216+293C>T XP_005264670.1:n.216+293C>T
XR_939729.1:n.447+131C>T
XR_939729.2:n.447+131C>T
NM_032601.4:c.378+131C>T MANE Select NP_115990.3:n.378+131C>T
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Search 100 bp 3'