Canonical Allele Identifier: CA347186053
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351351A>C (hg19) chr2:g.71124221A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124221A>C , CM000664.2:g.71124221A>C GRCh38
NC_000002.11:g.71351351A>C , CM000664.1:g.71351351A>C GRCh37
NC_000002.10:g.71204859A>C NCBI36
NG_008977.1:g.11044T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.363T>G MANE Select ENSP00000244217.5:p.His121Gln
ENST00000244217.5:c.363T>G ENSP00000244217.5:p.His121Gln
ENST00000413592.5:c.84+147T>G ENSP00000391140.1:n.84+147T>G
ENST00000486135.1:c.78T>G ENSP00000441569.1:p.His26Gln
ENST00000494660.6:c.78T>G ENSP00000437361.1:p.His26Gln
NM_032601.3:c.363T>G NP_115990.3:p.His121Gln
XM_005264613.2:c.216+147T>G XP_005264670.1:n.216+147T>G
XR_939729.1:n.432T>G
XR_939729.2:n.432T>G
NM_032601.4:c.363T>G MANE Select NP_115990.3:p.His121Gln
Search 100 bp 5'
Search 100 bp 3'