Canonical Allele Identifier: CA347189464
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351602C>G (hg19) chr2:g.71124472C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124472C>G , CM000664.2:g.71124472C>G GRCh38
NC_000002.11:g.71351602C>G , CM000664.1:g.71351602C>G GRCh37
NC_000002.10:g.71205110C>G NCBI36
NG_008977.1:g.10793G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.112G>C MANE Select ENSP00000244217.5:p.Val38Leu
ENST00000244217.5:c.112G>C ENSP00000244217.5:p.Val38Leu
ENST00000486135.1:c.-174G>C ENSP00000441569.1:n.-174G>C
ENST00000494660.6:c.-174G>C ENSP00000437361.1:n.-174G>C
NM_032601.3:c.112G>C NP_115990.3:p.Val38Leu
XM_005264613.2:c.112G>C XP_005264670.1:p.Val38Leu
XR_939729.1:n.181G>C
XR_939729.2:n.181G>C
NM_032601.4:c.112G>C MANE Select NP_115990.3:p.Val38Leu
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