Canonical Allele Identifier: CA347189305

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351578C>G (hg19) ; chr2:g.71124448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124448C>G , CM000664.2:g.71124448C>G	GRCh38
NC_000002.11:g.71351578C>G , CM000664.1:g.71351578C>G	GRCh37
NC_000002.10:g.71205086C>G	NCBI36
NG_008977.1:g.10817G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.136G>C MANE Select	ENSP00000244217.5:p.Gly46Arg
ENST00000244217.5:c.136G>C	ENSP00000244217.5:p.Gly46Arg
ENST00000413592.5:c.4G>C	ENSP00000391140.1:p.Gly2Arg
ENST00000486135.1:c.-150G>C	ENSP00000441569.1:n.-150G>C
ENST00000494660.6:c.-150G>C	ENSP00000437361.1:n.-150G>C
NM_032601.3:c.136G>C	NP_115990.3:p.Gly46Arg
XM_005264613.2:c.136G>C	XP_005264670.1:p.Gly46Arg
XR_939729.1:n.205G>C
XR_939729.2:n.205G>C
NM_032601.4:c.136G>C MANE Select	NP_115990.3:p.Gly46Arg