Canonical Allele Identifier: CA892637115

Gene: MCEE

Linked Data

• dbSNP Id: rs1264824954
• gnomAD v3: 2-71123960-G-C
• gnomAD v4: 2-71123960-G-C
• MyVariant Identifiers: chr2:g.71351090G>C (hg19) ; chr2:g.71123960G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71123960G>C , CM000664.2:g.71123960G>C	GRCh38
NC_000002.11:g.71351090G>C , CM000664.1:g.71351090G>C	GRCh37
NC_000002.10:g.71204598G>C	NCBI36
NG_008977.1:g.11305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+246C>G MANE Select	ENSP00000244217.5:n.378+246C>G
ENST00000244217.5:c.378+246C>G	ENSP00000244217.5:n.378+246C>G
ENST00000413592.5:c.84+408C>G	ENSP00000391140.1:n.84+408C>G
NM_032601.3:c.378+246C>G	NP_115990.3:n.378+246C>G
XM_005264613.2:c.216+408C>G	XP_005264670.1:n.216+408C>G
XR_939729.1:n.447+246C>G
XR_939729.2:n.447+246C>G
NM_032601.4:c.378+246C>G MANE Select	NP_115990.3:n.378+246C>G