Canonical Allele Identifier: CA1702623

Gene: MCEE

Linked Data

• ClinVar Variation Id: 643880
• ClinVar RCV Id: RCV000797686 ; RCV003362946
• dbSNP Id: rs369078225
• ExAC: 2:71351479 G / C
• gnomAD v2: 2-71351479-G-C
• gnomAD v3: 2-71124349-G-C
• gnomAD v4: 2-71124349-G-C
• MyVariant Identifiers: chr2:g.71351479G>C (hg19) ; chr2:g.71124349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124349G>C , CM000664.2:g.71124349G>C	GRCh38
NC_000002.11:g.71351479G>C , CM000664.1:g.71351479G>C	GRCh37
NC_000002.10:g.71204987G>C	NCBI36
NG_008977.1:g.10916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.235C>G MANE Select	ENSP00000244217.5:p.Leu79Val
ENST00000244217.5:c.235C>G	ENSP00000244217.5:p.Leu79Val
ENST00000413592.5:c.84+19C>G	ENSP00000391140.1:n.84+19C>G
ENST00000486135.1:c.-51C>G	ENSP00000441569.1:n.-51C>G
ENST00000494660.6:c.-51C>G	ENSP00000437361.1:n.-51C>G
NM_032601.3:c.235C>G	NP_115990.3:p.Leu79Val
XM_005264613.2:c.216+19C>G	XP_005264670.1:n.216+19C>G
XR_939729.1:n.304C>G
XR_939729.2:n.304C>G
NM_032601.4:c.235C>G MANE Select	NP_115990.3:p.Leu79Val