Canonical Allele Identifier: CA426691506

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124445-G-T
• MyVariant Identifiers: chr2:g.71351575G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124445G>T , CM000664.2:g.71124445G>T	GRCh38
NC_000002.11:g.71351575G>T , CM000664.1:g.71351575G>T	GRCh37
NC_000002.10:g.71205083G>T	NCBI36
NG_008977.1:g.10820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.139C>A MANE Select	ENSP00000244217.5:p.Arg47=
ENST00000244217.5:c.139C>A	ENSP00000244217.5:p.Arg47=
ENST00000413592.5:c.7C>A	ENSP00000391140.1:p.Arg3=
ENST00000486135.1:c.-147C>A	ENSP00000441569.1:n.-147C>A
ENST00000494660.6:c.-147C>A	ENSP00000437361.1:n.-147C>A
NM_032601.3:c.139C>A	NP_115990.3:p.Arg47=
XM_005264613.2:c.139C>A	XP_005264670.1:p.Arg47=
XR_939729.1:n.208C>A
XR_939729.2:n.208C>A
NM_032601.4:c.139C>A MANE Select	NP_115990.3:p.Arg47=