Canonical Allele Identifier: CA347186222

Gene: MCEE

Linked Data

• dbSNP Id: rs1253978660
• gnomAD v2: 2-71351364-G-A
• gnomAD v4: 2-71124234-G-A
• MyVariant Identifiers: chr2:g.71351364G>A (hg19) ; chr2:g.71124234G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124234G>A , CM000664.2:g.71124234G>A	GRCh38
NC_000002.11:g.71351364G>A , CM000664.1:g.71351364G>A	GRCh37
NC_000002.10:g.71204872G>A	NCBI36
NG_008977.1:g.11031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.350C>T MANE Select	ENSP00000244217.5:p.Ala117Val
ENST00000244217.5:c.350C>T	ENSP00000244217.5:p.Ala117Val
ENST00000413592.5:c.84+134C>T	ENSP00000391140.1:n.84+134C>T
ENST00000486135.1:c.65C>T	ENSP00000441569.1:p.Ala22Val
ENST00000494660.6:c.65C>T	ENSP00000437361.1:p.Ala22Val
NM_032601.3:c.350C>T	NP_115990.3:p.Ala117Val
XM_005264613.2:c.216+134C>T	XP_005264670.1:n.216+134C>T
XR_939729.1:n.419C>T
XR_939729.2:n.419C>T
NM_032601.4:c.350C>T MANE Select	NP_115990.3:p.Ala117Val