Canonical Allele Identifier: CA347185945

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124213-C-T
• MyVariant Identifiers: chr2:g.71351343C>T (hg19) ; chr2:g.71124213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124213C>T , CM000664.2:g.71124213C>T	GRCh38
NC_000002.11:g.71351343C>T , CM000664.1:g.71351343C>T	GRCh37
NC_000002.10:g.71204851C>T	NCBI36
NG_008977.1:g.11052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.371G>A MANE Select	ENSP00000244217.5:p.Cys124Tyr
ENST00000244217.5:c.371G>A	ENSP00000244217.5:p.Cys124Tyr
ENST00000413592.5:c.84+155G>A	ENSP00000391140.1:n.84+155G>A
ENST00000486135.1:c.86G>A	ENSP00000441569.1:p.Cys29Tyr
ENST00000494660.6:c.86G>A	ENSP00000437361.1:p.Cys29Tyr
NM_032601.3:c.371G>A	NP_115990.3:p.Cys124Tyr
XM_005264613.2:c.216+155G>A	XP_005264670.1:n.216+155G>A
XR_939729.1:n.440G>A
XR_939729.2:n.440G>A
NM_032601.4:c.371G>A MANE Select	NP_115990.3:p.Cys124Tyr