Canonical Allele Identifier: CA1702648
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs763486095
ExAC: 2:71351647 T / A
gnomAD v2: 2-71351647-T-A
gnomAD v4: 2-71124517-T-A
MyVariant Identifiers: chr2:g.71351647T>A (hg19) chr2:g.71124517T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124517T>A , CM000664.2:g.71124517T>A GRCh38
NC_000002.11:g.71351647T>A , CM000664.1:g.71351647T>A GRCh37
NC_000002.10:g.71205155T>A NCBI36
NG_008977.1:g.10748A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.67A>T MANE Select ENSP00000244217.5:p.Ile23Phe
ENST00000244217.5:c.67A>T ENSP00000244217.5:p.Ile23Phe
ENST00000486135.1:c.-219A>T ENSP00000441569.1:n.-219A>T
ENST00000494660.6:c.-219A>T ENSP00000437361.1:n.-219A>T
NM_032601.3:c.67A>T NP_115990.3:p.Ile23Phe
XM_005264613.2:c.67A>T XP_005264670.1:p.Ile23Phe
XR_939729.1:n.136A>T
XR_939729.2:n.136A>T
NM_032601.4:c.67A>T MANE Select NP_115990.3:p.Ile23Phe
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