Canonical Allele Identifier: CA426691566
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351579C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124449C>T , CM000664.2:g.71124449C>T GRCh38
NC_000002.11:g.71351579C>T , CM000664.1:g.71351579C>T GRCh37
NC_000002.10:g.71205087C>T NCBI36
NG_008977.1:g.10816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.135G>A MANE Select ENSP00000244217.5:p.Leu45=
ENST00000244217.5:c.135G>A ENSP00000244217.5:p.Leu45=
ENST00000413592.5:c.3G>A ENSP00000391140.1:p.Leu1=
ENST00000486135.1:c.-151G>A ENSP00000441569.1:n.-151G>A
ENST00000494660.6:c.-151G>A ENSP00000437361.1:n.-151G>A
NM_032601.3:c.135G>A NP_115990.3:p.Leu45=
XM_005264613.2:c.135G>A XP_005264670.1:p.Leu45=
XR_939729.1:n.204G>A
XR_939729.2:n.204G>A
NM_032601.4:c.135G>A MANE Select NP_115990.3:p.Leu45=