Canonical Allele Identifier: CA426691579
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 2844945
ClinVar RCV Id: RCV003604791
dbSNP Id: rs1288018846
gnomAD v3: 2-71124451-G-A
gnomAD v4: 2-71124451-G-A
MyVariant Identifiers: chr2:g.71351581G>A (hg19) chr2:g.71124451G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124451G>A , CM000664.2:g.71124451G>A GRCh38
NC_000002.11:g.71351581G>A , CM000664.1:g.71351581G>A GRCh37
NC_000002.10:g.71205089G>A NCBI36
NG_008977.1:g.10814C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.133C>T MANE Select ENSP00000244217.5:p.Leu45=
ENST00000244217.5:c.133C>T ENSP00000244217.5:p.Leu45=
ENST00000413592.5:c.1C>T ENSP00000391140.1:p.Leu1=
ENST00000486135.1:c.-153C>T ENSP00000441569.1:n.-153C>T
ENST00000494660.6:c.-153C>T ENSP00000437361.1:n.-153C>T
NM_032601.3:c.133C>T NP_115990.3:p.Leu45=
XM_005264613.2:c.133C>T XP_005264670.1:p.Leu45=
XR_939729.1:n.202C>T
XR_939729.2:n.202C>T
NM_032601.4:c.133C>T MANE Select NP_115990.3:p.Leu45=
Search 100 bp 5'
Search 100 bp 3'