Canonical Allele Identifier: CA312696

Gene: MCEE

Linked Data

• ClinVar Variation Id: 203810
• ClinVar RCV Id: RCV000203412 ; RCV000593824 ; RCV002282020
• dbSNP Id: rs138436961
• ExAC: 2:71337204 G / A
• gnomAD v2: 2-71337204-G-A
• gnomAD v3: 2-71110074-G-A
• gnomAD v4: 2-71110074-G-A
• MyVariant Identifiers: chr2:g.71337204G>A (hg19) ; chr2:g.71110074G>A (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71110074G>A , CM000664.2:g.71110074G>A	GRCh38
NC_000002.11:g.71337204G>A , CM000664.1:g.71337204G>A	GRCh37
NC_000002.10:g.71190712G>A	NCBI36
NG_008977.1:g.25191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.427C>T MANE Select	ENSP00000244217.5:p.Arg143Cys
ENST00000244217.5:c.427C>T	ENSP00000244217.5:p.Arg143Cys
ENST00000413592.5:c.133C>T	ENSP00000391140.1:p.Arg45Cys
ENST00000462609.2:n.373C>T
NM_032601.3:c.427C>T	NP_115990.3:p.Arg143Cys
XM_005264613.2:c.265C>T	XP_005264670.1:p.Arg89Cys
XR_939729.1:n.592C>T
XR_939729.2:n.592C>T
NM_032601.4:c.427C>T MANE Select	NP_115990.3:p.Arg143Cys