Canonical Allele Identifier: CA426690689
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351495T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124365T>A , CM000664.2:g.71124365T>A GRCh38
NC_000002.11:g.71351495T>A , CM000664.1:g.71351495T>A GRCh37
NC_000002.10:g.71205003T>A NCBI36
NG_008977.1:g.10900A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.219A>T MANE Select ENSP00000244217.5:p.Val73=
ENST00000244217.5:c.219A>T ENSP00000244217.5:p.Val73=
ENST00000413592.5:c.84+3A>T ENSP00000391140.1:n.84+3A>T
ENST00000486135.1:c.-67A>T ENSP00000441569.1:n.-67A>T
ENST00000494660.6:c.-67A>T ENSP00000437361.1:n.-67A>T
NM_032601.3:c.219A>T NP_115990.3:p.Val73=
XM_005264613.2:c.216+3A>T XP_005264670.1:n.216+3A>T
XR_939729.1:n.288A>T
XR_939729.2:n.288A>T
NM_032601.4:c.219A>T MANE Select NP_115990.3:p.Val73=