Canonical Allele Identifier: CA347186028

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351350G>A (hg19) ; chr2:g.71124220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124220G>A , CM000664.2:g.71124220G>A	GRCh38
NC_000002.11:g.71351350G>A , CM000664.1:g.71351350G>A	GRCh37
NC_000002.10:g.71204858G>A	NCBI36
NG_008977.1:g.11045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.364C>T MANE Select	ENSP00000244217.5:p.His122Tyr
ENST00000244217.5:c.364C>T	ENSP00000244217.5:p.His122Tyr
ENST00000413592.5:c.84+148C>T	ENSP00000391140.1:n.84+148C>T
ENST00000486135.1:c.79C>T	ENSP00000441569.1:p.His27Tyr
ENST00000494660.6:c.79C>T	ENSP00000437361.1:p.His27Tyr
NM_032601.3:c.364C>T	NP_115990.3:p.His122Tyr
XM_005264613.2:c.216+148C>T	XP_005264670.1:n.216+148C>T
XR_939729.1:n.433C>T
XR_939729.2:n.433C>T
NM_032601.4:c.364C>T MANE Select	NP_115990.3:p.His122Tyr