Canonical Allele Identifier: CA347189011

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351536T>A (hg19) ; chr2:g.71124406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124406T>A , CM000664.2:g.71124406T>A	GRCh38
NC_000002.11:g.71351536T>A , CM000664.1:g.71351536T>A	GRCh37
NC_000002.10:g.71205044T>A	NCBI36
NG_008977.1:g.10859A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.178A>T MANE Select	ENSP00000244217.5:p.Lys60Ter
ENST00000244217.5:c.178A>T	ENSP00000244217.5:p.Lys60Ter
ENST00000413592.5:c.46A>T	ENSP00000391140.1:p.Lys16Ter
ENST00000486135.1:c.-108A>T	ENSP00000441569.1:n.-108A>T
ENST00000494660.6:c.-108A>T	ENSP00000437361.1:n.-108A>T
NM_032601.3:c.178A>T	NP_115990.3:p.Lys60Ter
XM_005264613.2:c.178A>T	XP_005264670.1:p.Lys60Ter
XR_939729.1:n.247A>T
XR_939729.2:n.247A>T
NM_032601.4:c.178A>T MANE Select	NP_115990.3:p.Lys60Ter