Canonical Allele Identifier: CA347189324
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1421449629
gnomAD v2: 2-71351582-G-C
gnomAD v3: 2-71124452-G-C
gnomAD v4: 2-71124452-G-C
MyVariant Identifiers: chr2:g.71351582G>C (hg19) chr2:g.71124452G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124452G>C , CM000664.2:g.71124452G>C GRCh38
NC_000002.11:g.71351582G>C , CM000664.1:g.71351582G>C GRCh37
NC_000002.10:g.71205090G>C NCBI36
NG_008977.1:g.10813C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.132C>G MANE Select ENSP00000244217.5:p.Asn44Lys
ENST00000244217.5:c.132C>G ENSP00000244217.5:p.Asn44Lys
ENST00000486135.1:c.-154C>G ENSP00000441569.1:n.-154C>G
ENST00000494660.6:c.-154C>G ENSP00000437361.1:n.-154C>G
NM_032601.3:c.132C>G NP_115990.3:p.Asn44Lys
XM_005264613.2:c.132C>G XP_005264670.1:p.Asn44Lys
XR_939729.1:n.201C>G
XR_939729.2:n.201C>G
NM_032601.4:c.132C>G MANE Select NP_115990.3:p.Asn44Lys
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