Canonical Allele Identifier: CA533243306

Gene: MCEE

Linked Data

• dbSNP Id: rs1486805970
• gnomAD v2: 2-71351144-A-G
• gnomAD v3: 2-71124014-A-G
• gnomAD v4: 2-71124014-A-G
• MyVariant Identifiers: chr2:g.71351144A>G (hg19) ; chr2:g.71124014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124014A>G , CM000664.2:g.71124014A>G	GRCh38
NC_000002.11:g.71351144A>G , CM000664.1:g.71351144A>G	GRCh37
NC_000002.10:g.71204652A>G	NCBI36
NG_008977.1:g.11251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+192T>C MANE Select	ENSP00000244217.5:n.378+192T>C
ENST00000244217.5:c.378+192T>C	ENSP00000244217.5:n.378+192T>C
ENST00000413592.5:c.84+354T>C	ENSP00000391140.1:n.84+354T>C
NM_032601.3:c.378+192T>C	NP_115990.3:n.378+192T>C
XM_005264613.2:c.216+354T>C	XP_005264670.1:n.216+354T>C
XR_939729.1:n.447+192T>C
XR_939729.2:n.447+192T>C
NM_032601.4:c.378+192T>C MANE Select	NP_115990.3:n.378+192T>C