Canonical Allele Identifier: CA347189973
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351644G>T (hg19) chr2:g.71124514G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124514G>T , CM000664.2:g.71124514G>T GRCh38
NC_000002.11:g.71351644G>T , CM000664.1:g.71351644G>T GRCh37
NC_000002.10:g.71205152G>T NCBI36
NG_008977.1:g.10751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.70C>A MANE Select ENSP00000244217.5:p.Pro24Thr
ENST00000244217.5:c.70C>A ENSP00000244217.5:p.Pro24Thr
ENST00000486135.1:c.-216C>A ENSP00000441569.1:n.-216C>A
ENST00000494660.6:c.-216C>A ENSP00000437361.1:n.-216C>A
NM_032601.3:c.70C>A NP_115990.3:p.Pro24Thr
XM_005264613.2:c.70C>A XP_005264670.1:p.Pro24Thr
XR_939729.1:n.139C>A
XR_939729.2:n.139C>A
NM_032601.4:c.70C>A MANE Select NP_115990.3:p.Pro24Thr
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