Canonical Allele Identifier: CA347186319

Gene: MCEE

Linked Data

• dbSNP Id: rs1673167338
• COSMIC: COSM325780
• MyVariant Identifiers: chr2:g.71351373T>C (hg19) ; chr2:g.71124243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124243T>C , CM000664.2:g.71124243T>C	GRCh38
NC_000002.11:g.71351373T>C , CM000664.1:g.71351373T>C	GRCh37
NC_000002.10:g.71204881T>C	NCBI36
NG_008977.1:g.11022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.341A>G MANE Select	ENSP00000244217.5:p.Lys114Arg
ENST00000244217.5:c.341A>G	ENSP00000244217.5:p.Lys114Arg
ENST00000413592.5:c.84+125A>G	ENSP00000391140.1:n.84+125A>G
ENST00000486135.1:c.56A>G	ENSP00000441569.1:p.Lys19Arg
ENST00000494660.6:c.56A>G	ENSP00000437361.1:p.Lys19Arg
NM_032601.3:c.341A>G	NP_115990.3:p.Lys114Arg
XM_005264613.2:c.216+125A>G	XP_005264670.1:n.216+125A>G
XR_939729.1:n.410A>G
XR_939729.2:n.410A>G
NM_032601.4:c.341A>G MANE Select	NP_115990.3:p.Lys114Arg