Canonical Allele Identifier: CA533243313

Gene: MCEE

Linked Data

• dbSNP Id: rs1323292556
• gnomAD v2: 2-71351215-A-G
• gnomAD v3: 2-71124085-A-G
• gnomAD v4: 2-71124085-A-G
• MyVariant Identifiers: chr2:g.71351215A>G (hg19) ; chr2:g.71124085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124085A>G , CM000664.2:g.71124085A>G	GRCh38
NC_000002.11:g.71351215A>G , CM000664.1:g.71351215A>G	GRCh37
NC_000002.10:g.71204723A>G	NCBI36
NG_008977.1:g.11180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+121T>C MANE Select	ENSP00000244217.5:n.378+121T>C
ENST00000244217.5:c.378+121T>C	ENSP00000244217.5:n.378+121T>C
ENST00000413592.5:c.84+283T>C	ENSP00000391140.1:n.84+283T>C
NM_032601.3:c.378+121T>C	NP_115990.3:n.378+121T>C
XM_005264613.2:c.216+283T>C	XP_005264670.1:n.216+283T>C
XR_939729.1:n.447+121T>C
XR_939729.2:n.447+121T>C
NM_032601.4:c.378+121T>C MANE Select	NP_115990.3:n.378+121T>C