Canonical Allele Identifier: CA347189744
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351628G>C (hg19) chr2:g.71124498G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124498G>C , CM000664.2:g.71124498G>C GRCh38
NC_000002.11:g.71351628G>C , CM000664.1:g.71351628G>C GRCh37
NC_000002.10:g.71205136G>C NCBI36
NG_008977.1:g.10767C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.86C>G MANE Select ENSP00000244217.5:p.Ser29Cys
ENST00000244217.5:c.86C>G ENSP00000244217.5:p.Ser29Cys
ENST00000486135.1:c.-200C>G ENSP00000441569.1:n.-200C>G
ENST00000494660.6:c.-200C>G ENSP00000437361.1:n.-200C>G
NM_032601.3:c.86C>G NP_115990.3:p.Ser29Cys
XM_005264613.2:c.86C>G XP_005264670.1:p.Ser29Cys
XR_939729.1:n.155C>G
XR_939729.2:n.155C>G
NM_032601.4:c.86C>G MANE Select NP_115990.3:p.Ser29Cys
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