Canonical Allele Identifier: CA426691633
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351588C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124458C>A , CM000664.2:g.71124458C>A GRCh38
NC_000002.11:g.71351588C>A , CM000664.1:g.71351588C>A GRCh37
NC_000002.10:g.71205096C>A NCBI36
NG_008977.1:g.10807G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000244217.6:c.126G>T MANE Select ENSP00000244217.5:p.Val42=
ENST00000244217.5:c.126G>T ENSP00000244217.5:p.Val42=
ENST00000486135.1:c.-160G>T ENSP00000441569.1:n.-160G>T
ENST00000494660.6:c.-160G>T ENSP00000437361.1:n.-160G>T
NM_032601.3:c.126G>T NP_115990.3:p.Val42=
XM_005264613.2:c.126G>T XP_005264670.1:p.Val42=
XR_939729.1:n.195G>T
XR_939729.2:n.195G>T
NM_032601.4:c.126G>T MANE Select NP_115990.3:p.Val42=