Canonical Allele Identifier: CA347186376

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351374T>G (hg19) ; chr2:g.71124244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124244T>G , CM000664.2:g.71124244T>G	GRCh38
NC_000002.11:g.71351374T>G , CM000664.1:g.71351374T>G	GRCh37
NC_000002.10:g.71204882T>G	NCBI36
NG_008977.1:g.11021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.340A>C MANE Select	ENSP00000244217.5:p.Lys114Gln
ENST00000244217.5:c.340A>C	ENSP00000244217.5:p.Lys114Gln
ENST00000413592.5:c.84+124A>C	ENSP00000391140.1:n.84+124A>C
ENST00000486135.1:c.55A>C	ENSP00000441569.1:p.Lys19Gln
ENST00000494660.6:c.55A>C	ENSP00000437361.1:p.Lys19Gln
NM_032601.3:c.340A>C	NP_115990.3:p.Lys114Gln
XM_005264613.2:c.216+124A>C	XP_005264670.1:n.216+124A>C
XR_939729.1:n.409A>C
XR_939729.2:n.409A>C
NM_032601.4:c.340A>C MANE Select	NP_115990.3:p.Lys114Gln