Canonical Allele Identifier: CA892637113

Gene: MCEE

Linked Data

• dbSNP Id: rs1281843047
• MyVariant Identifiers: chr2:g.71351076T>G (hg19) ; chr2:g.71123946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71123946T>G , CM000664.2:g.71123946T>G	GRCh38
NC_000002.11:g.71351076T>G , CM000664.1:g.71351076T>G	GRCh37
NC_000002.10:g.71204584T>G	NCBI36
NG_008977.1:g.11319A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+260A>C MANE Select	ENSP00000244217.5:n.378+260A>C
ENST00000244217.5:c.378+260A>C	ENSP00000244217.5:n.378+260A>C
ENST00000413592.5:c.84+422A>C	ENSP00000391140.1:n.84+422A>C
NM_032601.3:c.378+260A>C	NP_115990.3:n.378+260A>C
XM_005264613.2:c.216+422A>C	XP_005264670.1:n.216+422A>C
XR_939729.1:n.447+260A>C
XR_939729.2:n.447+260A>C
NM_032601.4:c.378+260A>C MANE Select	NP_115990.3:n.378+260A>C