Canonical Allele Identifier: CA892637108
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1189444699
MyVariant Identifiers: chr2:g.71351064G>A (hg19) chr2:g.71123934G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123934G>A , CM000664.2:g.71123934G>A GRCh38
NC_000002.11:g.71351064G>A , CM000664.1:g.71351064G>A GRCh37
NC_000002.10:g.71204572G>A NCBI36
NG_008977.1:g.11331C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+272C>T MANE Select ENSP00000244217.5:n.378+272C>T
ENST00000244217.5:c.378+272C>T ENSP00000244217.5:n.378+272C>T
ENST00000413592.5:c.84+434C>T ENSP00000391140.1:n.84+434C>T
NM_032601.3:c.378+272C>T NP_115990.3:n.378+272C>T
XM_005264613.2:c.216+434C>T XP_005264670.1:n.216+434C>T
XR_939729.1:n.447+272C>T
XR_939729.2:n.447+272C>T
NM_032601.4:c.378+272C>T MANE Select NP_115990.3:n.378+272C>T
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