Canonical Allele Identifier: CA426691073

Gene: MCEE

Linked Data

• dbSNP Id: rs1558747714
• gnomAD v2: 2-71351534-CT-C
• gnomAD v4: 2-71124404-CT-C
• MyVariant Identifiers: chr2:g.71351535del (hg19) ; chr2:g.71124405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124408del , CM000664.2:g.71124408del	GRCh38
NC_000002.11:g.71351538del , CM000664.1:g.71351538del	GRCh37
NC_000002.10:g.71205046del	NCBI36
NG_008977.1:g.10860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.179del MANE Select	ENSP00000244217.5:p.Lys60ArgfsTer14
ENST00000244217.5:c.179del	ENSP00000244217.5:p.Lys60ArgfsTer14
ENST00000413592.5:c.47del	ENSP00000391140.1:p.Lys16ArgfsTer21
ENST00000486135.1:c.-107del	ENSP00000441569.1:n.-107del
ENST00000494660.6:c.-107del	ENSP00000437361.1:n.-107del
NM_032601.3:c.179del	NP_115990.3:p.Lys60ArgfsTer14
XM_005264613.2:c.179del	XP_005264670.1:p.Lys60ArgfsTer21
XR_939729.1:n.248del
XR_939729.2:n.248del
NM_032601.4:c.179del MANE Select	NP_115990.3:p.Lys60ArgfsTer14