Canonical Allele Identifier: CA1702594

Gene: MCEE

Linked Data

• dbSNP Id: rs749875300
• ExAC: 2:71351311 C / A
• gnomAD v2: 2-71351311-C-A
• gnomAD v3: 2-71124181-C-A
• gnomAD v4: 2-71124181-C-A
• MyVariant Identifiers: chr2:g.71351311C>A (hg19) ; chr2:g.71124181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124181C>A , CM000664.2:g.71124181C>A	GRCh38
NC_000002.11:g.71351311C>A , CM000664.1:g.71351311C>A	GRCh37
NC_000002.10:g.71204819C>A	NCBI36
NG_008977.1:g.11084G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+25G>T MANE Select	ENSP00000244217.5:n.378+25G>T
ENST00000244217.5:c.378+25G>T	ENSP00000244217.5:n.378+25G>T
ENST00000413592.5:c.84+187G>T	ENSP00000391140.1:n.84+187G>T
NM_032601.3:c.378+25G>T	NP_115990.3:n.378+25G>T
XM_005264613.2:c.216+187G>T	XP_005264670.1:n.216+187G>T
XR_939729.1:n.447+25G>T
XR_939729.2:n.447+25G>T
NM_032601.4:c.378+25G>T MANE Select	NP_115990.3:n.378+25G>T