Canonical Allele Identifier: CA49696531

Gene: MCEE

Linked Data

• dbSNP Id: rs978006249
• gnomAD v4: 2-71124067-A-C
• MyVariant Identifiers: chr2:g.71351197A>C (hg19) ; chr2:g.71124067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124067A>C , CM000664.2:g.71124067A>C	GRCh38
NC_000002.11:g.71351197A>C , CM000664.1:g.71351197A>C	GRCh37
NC_000002.10:g.71204705A>C	NCBI36
NG_008977.1:g.11198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+139T>G MANE Select	ENSP00000244217.5:n.378+139T>G
ENST00000244217.5:c.378+139T>G	ENSP00000244217.5:n.378+139T>G
ENST00000413592.5:c.84+301T>G	ENSP00000391140.1:n.84+301T>G
NM_032601.3:c.378+139T>G	NP_115990.3:n.378+139T>G
XM_005264613.2:c.216+301T>G	XP_005264670.1:n.216+301T>G
XR_939729.1:n.447+139T>G
XR_939729.2:n.447+139T>G
NM_032601.4:c.378+139T>G MANE Select	NP_115990.3:n.378+139T>G