Canonical Allele Identifier: CA1702630
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs765599114
ExAC: 2:71351522 A / C
gnomAD v2: 2-71351522-A-C
gnomAD v3: 2-71124392-A-C
gnomAD v4: 2-71124392-A-C
MyVariant Identifiers: chr2:g.71351522A>C (hg19) chr2:g.71124392A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124392A>C , CM000664.2:g.71124392A>C GRCh38
NC_000002.11:g.71351522A>C , CM000664.1:g.71351522A>C GRCh37
NC_000002.10:g.71205030A>C NCBI36
NG_008977.1:g.10873T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.192T>G MANE Select ENSP00000244217.5:p.Phe64Leu
ENST00000244217.5:c.192T>G ENSP00000244217.5:p.Phe64Leu
ENST00000413592.5:c.60T>G ENSP00000391140.1:p.Phe20Leu
ENST00000486135.1:c.-94T>G ENSP00000441569.1:n.-94T>G
ENST00000494660.6:c.-94T>G ENSP00000437361.1:n.-94T>G
NM_032601.3:c.192T>G NP_115990.3:p.Phe64Leu
XM_005264613.2:c.192T>G XP_005264670.1:p.Phe64Leu
XR_939729.1:n.261T>G
XR_939729.2:n.261T>G
NM_032601.4:c.192T>G MANE Select NP_115990.3:p.Phe64Leu
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