Canonical Allele Identifier: CA347189349

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351585C>A (hg19) ; chr2:g.71124455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124455C>A , CM000664.2:g.71124455C>A	GRCh38
NC_000002.11:g.71351585C>A , CM000664.1:g.71351585C>A	GRCh37
NC_000002.10:g.71205093C>A	NCBI36
NG_008977.1:g.10810G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.129G>T MANE Select	ENSP00000244217.5:p.Trp43Cys
ENST00000244217.5:c.129G>T	ENSP00000244217.5:p.Trp43Cys
ENST00000486135.1:c.-157G>T	ENSP00000441569.1:n.-157G>T
ENST00000494660.6:c.-157G>T	ENSP00000437361.1:n.-157G>T
NM_032601.3:c.129G>T	NP_115990.3:p.Trp43Cys
XM_005264613.2:c.129G>T	XP_005264670.1:p.Trp43Cys
XR_939729.1:n.198G>T
XR_939729.2:n.198G>T
NM_032601.4:c.129G>T MANE Select	NP_115990.3:p.Trp43Cys