Canonical Allele Identifier: CA1702606

Gene: MCEE

Linked Data

• ClinVar Variation Id: 649586
• ClinVar RCV Id: RCV000804557
• dbSNP Id: rs6748672
• ExAC: 2:71351403 C / T
• gnomAD v2: 2-71351403-C-T
• gnomAD v3: 2-71124273-C-T
• gnomAD v4: 2-71124273-C-T
• MyVariant Identifiers: chr2:g.71351403C>T (hg19) ; chr2:g.71124273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124273C>T , CM000664.2:g.71124273C>T	GRCh38
NC_000002.11:g.71351403C>T , CM000664.1:g.71351403C>T	GRCh37
NC_000002.10:g.71204911C>T	NCBI36
NG_008977.1:g.10992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.311G>A MANE Select	ENSP00000244217.5:p.Arg104His
ENST00000244217.5:c.311G>A	ENSP00000244217.5:p.Arg104His
ENST00000413592.5:c.84+95G>A	ENSP00000391140.1:n.84+95G>A
ENST00000486135.1:c.26G>A	ENSP00000441569.1:p.Arg9His
ENST00000494660.6:c.26G>A	ENSP00000437361.1:p.Arg9His
NM_032601.3:c.311G>A	NP_115990.3:p.Arg104His
XM_005264613.2:c.216+95G>A	XP_005264670.1:n.216+95G>A
XR_939729.1:n.380G>A
XR_939729.2:n.380G>A
NM_032601.4:c.311G>A MANE Select	NP_115990.3:p.Arg104His