Canonical Allele Identifier: CA347185963

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124214-A-G
• MyVariant Identifiers: chr2:g.71351344A>G (hg19) ; chr2:g.71124214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124214A>G , CM000664.2:g.71124214A>G	GRCh38
NC_000002.11:g.71351344A>G , CM000664.1:g.71351344A>G	GRCh37
NC_000002.10:g.71204852A>G	NCBI36
NG_008977.1:g.11051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.370T>C MANE Select	ENSP00000244217.5:p.Cys124Arg
ENST00000244217.5:c.370T>C	ENSP00000244217.5:p.Cys124Arg
ENST00000413592.5:c.84+154T>C	ENSP00000391140.1:n.84+154T>C
ENST00000486135.1:c.85T>C	ENSP00000441569.1:p.Cys29Arg
ENST00000494660.6:c.85T>C	ENSP00000437361.1:p.Cys29Arg
NM_032601.3:c.370T>C	NP_115990.3:p.Cys124Arg
XM_005264613.2:c.216+154T>C	XP_005264670.1:n.216+154T>C
XR_939729.1:n.439T>C
XR_939729.2:n.439T>C
NM_032601.4:c.370T>C MANE Select	NP_115990.3:p.Cys124Arg