Canonical Allele Identifier: CA426690164

Gene: MCEE

Linked Data

• dbSNP Id: rs1318725544
• gnomAD v2: 2-71351483-G-T
• gnomAD v3: 2-71124353-G-T
• gnomAD v4: 2-71124353-G-T
• MyVariant Identifiers: chr2:g.71351483G>T (hg19) ; chr2:g.71124353G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124353G>T , CM000664.2:g.71124353G>T	GRCh38
NC_000002.11:g.71351483G>T , CM000664.1:g.71351483G>T	GRCh37
NC_000002.10:g.71204991G>T	NCBI36
NG_008977.1:g.10912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.231C>A MANE Select	ENSP00000244217.5:p.Val77=
ENST00000244217.5:c.231C>A	ENSP00000244217.5:p.Val77=
ENST00000413592.5:c.84+15C>A	ENSP00000391140.1:n.84+15C>A
ENST00000486135.1:c.-55C>A	ENSP00000441569.1:n.-55C>A
ENST00000494660.6:c.-55C>A	ENSP00000437361.1:n.-55C>A
NM_032601.3:c.231C>A	NP_115990.3:p.Val77=
XM_005264613.2:c.216+15C>A	XP_005264670.1:n.216+15C>A
XR_939729.1:n.300C>A
XR_939729.2:n.300C>A
NM_032601.4:c.231C>A MANE Select	NP_115990.3:p.Val77=