Canonical Allele Identifier: CA347189346
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1433539413
gnomAD v2: 2-71351585-C-T
gnomAD v3: 2-71124455-C-T
gnomAD v4: 2-71124455-C-T
MyVariant Identifiers: chr2:g.71351585C>T (hg19) chr2:g.71124455C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124455C>T , CM000664.2:g.71124455C>T GRCh38
NC_000002.11:g.71351585C>T , CM000664.1:g.71351585C>T GRCh37
NC_000002.10:g.71205093C>T NCBI36
NG_008977.1:g.10810G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.129G>A MANE Select ENSP00000244217.5:p.Trp43Ter
ENST00000244217.5:c.129G>A ENSP00000244217.5:p.Trp43Ter
ENST00000486135.1:c.-157G>A ENSP00000441569.1:n.-157G>A
ENST00000494660.6:c.-157G>A ENSP00000437361.1:n.-157G>A
NM_032601.3:c.129G>A NP_115990.3:p.Trp43Ter
XM_005264613.2:c.129G>A XP_005264670.1:p.Trp43Ter
XR_939729.1:n.198G>A
XR_939729.2:n.198G>A
NM_032601.4:c.129G>A MANE Select NP_115990.3:p.Trp43Ter
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