Canonical Allele Identifier: CA347189301

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351577C>T (hg19) ; chr2:g.71124447C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124447C>T , CM000664.2:g.71124447C>T	GRCh38
NC_000002.11:g.71351577C>T , CM000664.1:g.71351577C>T	GRCh37
NC_000002.10:g.71205085C>T	NCBI36
NG_008977.1:g.10818G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.137G>A MANE Select	ENSP00000244217.5:p.Gly46Asp
ENST00000244217.5:c.137G>A	ENSP00000244217.5:p.Gly46Asp
ENST00000413592.5:c.5G>A	ENSP00000391140.1:p.Gly2Asp
ENST00000486135.1:c.-149G>A	ENSP00000441569.1:n.-149G>A
ENST00000494660.6:c.-149G>A	ENSP00000437361.1:n.-149G>A
NM_032601.3:c.137G>A	NP_115990.3:p.Gly46Asp
XM_005264613.2:c.137G>A	XP_005264670.1:p.Gly46Asp
XR_939729.1:n.206G>A
XR_939729.2:n.206G>A
NM_032601.4:c.137G>A MANE Select	NP_115990.3:p.Gly46Asp