Canonical Allele Identifier: CA347188980

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351532G>A (hg19) ; chr2:g.71124402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124402G>A , CM000664.2:g.71124402G>A	GRCh38
NC_000002.11:g.71351532G>A , CM000664.1:g.71351532G>A	GRCh37
NC_000002.10:g.71205040G>A	NCBI36
NG_008977.1:g.10863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.182C>T MANE Select	ENSP00000244217.5:p.Ala61Val
ENST00000244217.5:c.182C>T	ENSP00000244217.5:p.Ala61Val
ENST00000413592.5:c.50C>T	ENSP00000391140.1:p.Ala17Val
ENST00000486135.1:c.-104C>T	ENSP00000441569.1:n.-104C>T
ENST00000494660.6:c.-104C>T	ENSP00000437361.1:n.-104C>T
NM_032601.3:c.182C>T	NP_115990.3:p.Ala61Val
XM_005264613.2:c.182C>T	XP_005264670.1:p.Ala61Val
XR_939729.1:n.251C>T
XR_939729.2:n.251C>T
NM_032601.4:c.182C>T MANE Select	NP_115990.3:p.Ala61Val