Canonical Allele Identifier: CA347188659

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351503C>G (hg19) ; chr2:g.71124373C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124373C>G , CM000664.2:g.71124373C>G	GRCh38
NC_000002.11:g.71351503C>G , CM000664.1:g.71351503C>G	GRCh37
NC_000002.10:g.71205011C>G	NCBI36
NG_008977.1:g.10892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.211G>C MANE Select	ENSP00000244217.5:p.Ala71Pro
ENST00000244217.5:c.211G>C	ENSP00000244217.5:p.Ala71Pro
ENST00000413592.5:c.79G>C	ENSP00000391140.1:p.Ala27Pro
ENST00000486135.1:c.-75G>C	ENSP00000441569.1:n.-75G>C
ENST00000494660.6:c.-75G>C	ENSP00000437361.1:n.-75G>C
NM_032601.3:c.211G>C	NP_115990.3:p.Ala71Pro
XM_005264613.2:c.211G>C	XP_005264670.1:p.Ala71Pro
XR_939729.1:n.280G>C
XR_939729.2:n.280G>C
NM_032601.4:c.211G>C MANE Select	NP_115990.3:p.Ala71Pro