Canonical Allele Identifier: CA347189344
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351584T>G (hg19) chr2:g.71124454T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124454T>G , CM000664.2:g.71124454T>G GRCh38
NC_000002.11:g.71351584T>G , CM000664.1:g.71351584T>G GRCh37
NC_000002.10:g.71205092T>G NCBI36
NG_008977.1:g.10811A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.130A>C MANE Select ENSP00000244217.5:p.Asn44His
ENST00000244217.5:c.130A>C ENSP00000244217.5:p.Asn44His
ENST00000486135.1:c.-156A>C ENSP00000441569.1:n.-156A>C
ENST00000494660.6:c.-156A>C ENSP00000437361.1:n.-156A>C
NM_032601.3:c.130A>C NP_115990.3:p.Asn44His
XM_005264613.2:c.130A>C XP_005264670.1:p.Asn44His
XR_939729.1:n.199A>C
XR_939729.2:n.199A>C
NM_032601.4:c.130A>C MANE Select NP_115990.3:p.Asn44His
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Search 100 bp 3'