Canonical Allele Identifier: CA347187513

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124349-G-T
• MyVariant Identifiers: chr2:g.71351479G>T (hg19) ; chr2:g.71124349G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124349G>T , CM000664.2:g.71124349G>T	GRCh38
NC_000002.11:g.71351479G>T , CM000664.1:g.71351479G>T	GRCh37
NC_000002.10:g.71204987G>T	NCBI36
NG_008977.1:g.10916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.235C>A MANE Select	ENSP00000244217.5:p.Leu79Ile
ENST00000244217.5:c.235C>A	ENSP00000244217.5:p.Leu79Ile
ENST00000413592.5:c.84+19C>A	ENSP00000391140.1:n.84+19C>A
ENST00000486135.1:c.-51C>A	ENSP00000441569.1:n.-51C>A
ENST00000494660.6:c.-51C>A	ENSP00000437361.1:n.-51C>A
NM_032601.3:c.235C>A	NP_115990.3:p.Leu79Ile
XM_005264613.2:c.216+19C>A	XP_005264670.1:n.216+19C>A
XR_939729.1:n.304C>A
XR_939729.2:n.304C>A
NM_032601.4:c.235C>A MANE Select	NP_115990.3:p.Leu79Ile