Canonical Allele Identifier: CA426692015
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351645A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124515A>G , CM000664.2:g.71124515A>G GRCh38
NC_000002.11:g.71351645A>G , CM000664.1:g.71351645A>G GRCh37
NC_000002.10:g.71205153A>G NCBI36
NG_008977.1:g.10750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.69T>C MANE Select ENSP00000244217.5:p.Ile23=
ENST00000244217.5:c.69T>C ENSP00000244217.5:p.Ile23=
ENST00000486135.1:c.-217T>C ENSP00000441569.1:n.-217T>C
ENST00000494660.6:c.-217T>C ENSP00000437361.1:n.-217T>C
NM_032601.3:c.69T>C NP_115990.3:p.Ile23=
XM_005264613.2:c.69T>C XP_005264670.1:p.Ile23=
XR_939729.1:n.138T>C
XR_939729.2:n.138T>C
NM_032601.4:c.69T>C MANE Select NP_115990.3:p.Ile23=