Canonical Allele Identifier: CA892637114
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1356898032
MyVariant Identifiers: chr2:g.71351085A>G (hg19) chr2:g.71123955A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123955A>G , CM000664.2:g.71123955A>G GRCh38
NC_000002.11:g.71351085A>G , CM000664.1:g.71351085A>G GRCh37
NC_000002.10:g.71204593A>G NCBI36
NG_008977.1:g.11310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+251T>C MANE Select ENSP00000244217.5:n.378+251T>C
ENST00000244217.5:c.378+251T>C ENSP00000244217.5:n.378+251T>C
ENST00000413592.5:c.84+413T>C ENSP00000391140.1:n.84+413T>C
NM_032601.3:c.378+251T>C NP_115990.3:n.378+251T>C
XM_005264613.2:c.216+413T>C XP_005264670.1:n.216+413T>C
XR_939729.1:n.447+251T>C
XR_939729.2:n.447+251T>C
NM_032601.4:c.378+251T>C MANE Select NP_115990.3:n.378+251T>C
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