Canonical Allele Identifier: CA347189680
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351620A>G (hg19) chr2:g.71124490A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124490A>G , CM000664.2:g.71124490A>G GRCh38
NC_000002.11:g.71351620A>G , CM000664.1:g.71351620A>G GRCh37
NC_000002.10:g.71205128A>G NCBI36
NG_008977.1:g.10775T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.94T>C MANE Select ENSP00000244217.5:p.Ser32Pro
ENST00000244217.5:c.94T>C ENSP00000244217.5:p.Ser32Pro
ENST00000486135.1:c.-192T>C ENSP00000441569.1:n.-192T>C
ENST00000494660.6:c.-192T>C ENSP00000437361.1:n.-192T>C
NM_032601.3:c.94T>C NP_115990.3:p.Ser32Pro
XM_005264613.2:c.94T>C XP_005264670.1:p.Ser32Pro
XR_939729.1:n.163T>C
XR_939729.2:n.163T>C
NM_032601.4:c.94T>C MANE Select NP_115990.3:p.Ser32Pro
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