Canonical Allele Identifier: CA49696465

Gene: MCEE

Linked Data

• dbSNP Id: rs959107536
• gnomAD v2: 2-71351124-C-CA
• gnomAD v3: 2-71123994-C-CA
• gnomAD v4: 2-71123994-C-CA
• MyVariant Identifiers: chr2:g.71351124_71351125insA (hg19) ; chr2:g.71123994_71123995insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124001dup , CM000664.2:g.71124001dup	GRCh38
NC_000002.11:g.71351131dup , CM000664.1:g.71351131dup	GRCh37
NC_000002.10:g.71204639dup	NCBI36
NG_008977.1:g.11270dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+211dup MANE Select	ENSP00000244217.5:n.378+211dup
ENST00000244217.5:c.378+211dup	ENSP00000244217.5:n.378+211dup
ENST00000413592.5:c.84+373dup	ENSP00000391140.1:n.84+373dup
NM_032601.3:c.378+211dup	NP_115990.3:n.378+211dup
XM_005264613.2:c.216+373dup	XP_005264670.1:n.216+373dup
XR_939729.1:n.447+211dup
XR_939729.2:n.447+211dup
NM_032601.4:c.378+211dup MANE Select	NP_115990.3:n.378+211dup