Canonical Allele Identifier: CA426691433

Gene: MCEE

Linked Data

• dbSNP Id: rs1673175120
• gnomAD v3: 2-71124437-G-A
• gnomAD v4: 2-71124437-G-A
• MyVariant Identifiers: chr2:g.71351567G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124437G>A , CM000664.2:g.71124437G>A	GRCh38
NC_000002.11:g.71351567G>A , CM000664.1:g.71351567G>A	GRCh37
NC_000002.10:g.71205075G>A	NCBI36
NG_008977.1:g.10828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.147C>T MANE Select	ENSP00000244217.5:p.Asn49=
ENST00000244217.5:c.147C>T	ENSP00000244217.5:p.Asn49=
ENST00000413592.5:c.15C>T	ENSP00000391140.1:p.Asn5=
ENST00000486135.1:c.-139C>T	ENSP00000441569.1:n.-139C>T
ENST00000494660.6:c.-139C>T	ENSP00000437361.1:n.-139C>T
NM_032601.3:c.147C>T	NP_115990.3:p.Asn49=
XM_005264613.2:c.147C>T	XP_005264670.1:p.Asn49=
XR_939729.1:n.216C>T
XR_939729.2:n.216C>T
NM_032601.4:c.147C>T MANE Select	NP_115990.3:p.Asn49=