Canonical Allele Identifier: CA1702640

Gene: MCEE

Linked Data

• dbSNP Id: rs772949284
• ExAC: 2:71351579 C / G
• gnomAD v2: 2-71351579-C-G
• gnomAD v4: 2-71124449-C-G
• MyVariant Identifiers: chr2:g.71351579C>G (hg19) ; chr2:g.71124449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124449C>G , CM000664.2:g.71124449C>G	GRCh38
NC_000002.11:g.71351579C>G , CM000664.1:g.71351579C>G	GRCh37
NC_000002.10:g.71205087C>G	NCBI36
NG_008977.1:g.10816G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244217.6:c.135G>C MANE Select	ENSP00000244217.5:p.Leu45=
ENST00000244217.5:c.135G>C	ENSP00000244217.5:p.Leu45=
ENST00000413592.5:c.3G>C	ENSP00000391140.1:p.Leu1=
ENST00000486135.1:c.-151G>C	ENSP00000441569.1:n.-151G>C
ENST00000494660.6:c.-151G>C	ENSP00000437361.1:n.-151G>C
NM_032601.3:c.135G>C	NP_115990.3:p.Leu45=
XM_005264613.2:c.135G>C	XP_005264670.1:p.Leu45=
XR_939729.1:n.204G>C
XR_939729.2:n.204G>C
NM_032601.4:c.135G>C MANE Select	NP_115990.3:p.Leu45=