Canonical Allele Identifier: CA49696505
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1054021063
gnomAD v2: 2-71351176-G-T
gnomAD v3: 2-71124046-G-T
gnomAD v4: 2-71124046-G-T
MyVariant Identifiers: chr2:g.71351176G>T (hg19) chr2:g.71124046G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124046G>T , CM000664.2:g.71124046G>T GRCh38
NC_000002.11:g.71351176G>T , CM000664.1:g.71351176G>T GRCh37
NC_000002.10:g.71204684G>T NCBI36
NG_008977.1:g.11219C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+160C>A MANE Select ENSP00000244217.5:n.378+160C>A
ENST00000244217.5:c.378+160C>A ENSP00000244217.5:n.378+160C>A
ENST00000413592.5:c.84+322C>A ENSP00000391140.1:n.84+322C>A
NM_032601.3:c.378+160C>A NP_115990.3:n.378+160C>A
XM_005264613.2:c.216+322C>A XP_005264670.1:n.216+322C>A
XR_939729.1:n.447+160C>A
XR_939729.2:n.447+160C>A
NM_032601.4:c.378+160C>A MANE Select NP_115990.3:n.378+160C>A
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