Canonical Allele Identifier: CA312700

Gene: MCEE

Linked Data

• ClinVar Variation Id: 203812
• ClinVar RCV Id: RCV000186009 ; RCV000203363 ; RCV000756325
• dbSNP Id: rs147401037
• ExAC: 2:71351536 T / G
• gnomAD v2: 2-71351536-T-G
• gnomAD v3: 2-71124406-T-G
• gnomAD v4: 2-71124406-T-G
• MyVariant Identifiers: chr2:g.71351536T>G (hg19) ; chr2:g.71124406T>G (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124406T>G , CM000664.2:g.71124406T>G	GRCh38
NC_000002.11:g.71351536T>G , CM000664.1:g.71351536T>G	GRCh37
NC_000002.10:g.71205044T>G	NCBI36
NG_008977.1:g.10859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.178A>C MANE Select	ENSP00000244217.5:p.Lys60Gln
ENST00000244217.5:c.178A>C	ENSP00000244217.5:p.Lys60Gln
ENST00000413592.5:c.46A>C	ENSP00000391140.1:p.Lys16Gln
ENST00000486135.1:c.-108A>C	ENSP00000441569.1:n.-108A>C
ENST00000494660.6:c.-108A>C	ENSP00000437361.1:n.-108A>C
NM_032601.3:c.178A>C	NP_115990.3:p.Lys60Gln
XM_005264613.2:c.178A>C	XP_005264670.1:p.Lys60Gln
XR_939729.1:n.247A>C
XR_939729.2:n.247A>C
NM_032601.4:c.178A>C MANE Select	NP_115990.3:p.Lys60Gln