Canonical Allele Identifier: CA347189184

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351557T>A (hg19) ; chr2:g.71124427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124427T>A , CM000664.2:g.71124427T>A	GRCh38
NC_000002.11:g.71351557T>A , CM000664.1:g.71351557T>A	GRCh37
NC_000002.10:g.71205065T>A	NCBI36
NG_008977.1:g.10838A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.157A>T MANE Select	ENSP00000244217.5:p.Ile53Leu
ENST00000244217.5:c.157A>T	ENSP00000244217.5:p.Ile53Leu
ENST00000413592.5:c.25A>T	ENSP00000391140.1:p.Ile9Leu
ENST00000486135.1:c.-129A>T	ENSP00000441569.1:n.-129A>T
ENST00000494660.6:c.-129A>T	ENSP00000437361.1:n.-129A>T
NM_032601.3:c.157A>T	NP_115990.3:p.Ile53Leu
XM_005264613.2:c.157A>T	XP_005264670.1:p.Ile53Leu
XR_939729.1:n.226A>T
XR_939729.2:n.226A>T
NM_032601.4:c.157A>T MANE Select	NP_115990.3:p.Ile53Leu