Canonical Allele Identifier: CA347186496

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351383A>G (hg19) ; chr2:g.71124253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124253A>G , CM000664.2:g.71124253A>G	GRCh38
NC_000002.11:g.71351383A>G , CM000664.1:g.71351383A>G	GRCh37
NC_000002.10:g.71204891A>G	NCBI36
NG_008977.1:g.11012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.331T>C MANE Select	ENSP00000244217.5:p.Phe111Leu
ENST00000244217.5:c.331T>C	ENSP00000244217.5:p.Phe111Leu
ENST00000413592.5:c.84+115T>C	ENSP00000391140.1:n.84+115T>C
ENST00000486135.1:c.46T>C	ENSP00000441569.1:p.Phe16Leu
ENST00000494660.6:c.46T>C	ENSP00000437361.1:p.Phe16Leu
NM_032601.3:c.331T>C	NP_115990.3:p.Phe111Leu
XM_005264613.2:c.216+115T>C	XP_005264670.1:n.216+115T>C
XR_939729.1:n.400T>C
XR_939729.2:n.400T>C
NM_032601.4:c.331T>C MANE Select	NP_115990.3:p.Phe111Leu