Canonical Allele Identifier: CA1702651

Gene: MCEE

Linked Data

• dbSNP Id: rs757699135
• ExAC: 2:71351674 C / T
• gnomAD v2: 2-71351674-C-T
• MyVariant Identifiers: chr2:g.71351674C>T (hg19) ; chr2:g.71124544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124544C>T , CM000664.2:g.71124544C>T	GRCh38
NC_000002.11:g.71351674C>T , CM000664.1:g.71351674C>T	GRCh37
NC_000002.10:g.71205182C>T	NCBI36
NG_008977.1:g.10721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.41-1G>A MANE Select	ENSP00000244217.5:n.41-1G>A
ENST00000244217.5:c.41-1G>A	ENSP00000244217.5:n.41-1G>A
ENST00000486135.1:c.-245-1G>A	ENSP00000441569.1:n.-245-1G>A
ENST00000494660.6:c.-245-1G>A	ENSP00000437361.1:n.-245-1G>A
NM_032601.3:c.41-1G>A	NP_115990.3:n.41-1G>A
XM_005264613.2:c.41-1G>A	XP_005264670.1:n.41-1G>A
XR_939729.1:n.110-1G>A
XR_939729.2:n.110-1G>A
NM_032601.4:c.41-1G>A MANE Select	NP_115990.3:n.41-1G>A