Canonical Allele Identifier: CA347186241

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351364G>T (hg19) ; chr2:g.71124234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124234G>T , CM000664.2:g.71124234G>T	GRCh38
NC_000002.11:g.71351364G>T , CM000664.1:g.71351364G>T	GRCh37
NC_000002.10:g.71204872G>T	NCBI36
NG_008977.1:g.11031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.350C>A MANE Select	ENSP00000244217.5:p.Ala117Asp
ENST00000244217.5:c.350C>A	ENSP00000244217.5:p.Ala117Asp
ENST00000413592.5:c.84+134C>A	ENSP00000391140.1:n.84+134C>A
ENST00000486135.1:c.65C>A	ENSP00000441569.1:p.Ala22Asp
ENST00000494660.6:c.65C>A	ENSP00000437361.1:p.Ala22Asp
NM_032601.3:c.350C>A	NP_115990.3:p.Ala117Asp
XM_005264613.2:c.216+134C>A	XP_005264670.1:n.216+134C>A
XR_939729.1:n.419C>A
XR_939729.2:n.419C>A
NM_032601.4:c.350C>A MANE Select	NP_115990.3:p.Ala117Asp