Canonical Allele Identifier: CA426689446

Gene: MCEE

Linked Data

• ClinVar Variation Id: 1911422
• ClinVar RCV Id: RCV002596941
• gnomAD v4: 2-71124230-T-A
• MyVariant Identifiers: chr2:g.71351360T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124230T>A , CM000664.2:g.71124230T>A	GRCh38
NC_000002.11:g.71351360T>A , CM000664.1:g.71351360T>A	GRCh37
NC_000002.10:g.71204868T>A	NCBI36
NG_008977.1:g.11035A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.354A>T MANE Select	ENSP00000244217.5:p.Gly118=
ENST00000244217.5:c.354A>T	ENSP00000244217.5:p.Gly118=
ENST00000413592.5:c.84+138A>T	ENSP00000391140.1:n.84+138A>T
ENST00000486135.1:c.69A>T	ENSP00000441569.1:p.Gly23=
ENST00000494660.6:c.69A>T	ENSP00000437361.1:p.Gly23=
NM_032601.3:c.354A>T	NP_115990.3:p.Gly118=
XM_005264613.2:c.216+138A>T	XP_005264670.1:n.216+138A>T
XR_939729.1:n.423A>T
XR_939729.2:n.423A>T
NM_032601.4:c.354A>T MANE Select	NP_115990.3:p.Gly118=