Canonical Allele Identifier: CA347189367

Gene: MCEE

Linked Data

• dbSNP Id: rs1312897489
• gnomAD v2: 2-71351589-A-G
• gnomAD v4: 2-71124459-A-G
• MyVariant Identifiers: chr2:g.71351589A>G (hg19) ; chr2:g.71124459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124459A>G , CM000664.2:g.71124459A>G	GRCh38
NC_000002.11:g.71351589A>G , CM000664.1:g.71351589A>G	GRCh37
NC_000002.10:g.71205097A>G	NCBI36
NG_008977.1:g.10806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.125T>C MANE Select	ENSP00000244217.5:p.Val42Ala
ENST00000244217.5:c.125T>C	ENSP00000244217.5:p.Val42Ala
ENST00000486135.1:c.-161T>C	ENSP00000441569.1:n.-161T>C
ENST00000494660.6:c.-161T>C	ENSP00000437361.1:n.-161T>C
NM_032601.3:c.125T>C	NP_115990.3:p.Val42Ala
XM_005264613.2:c.125T>C	XP_005264670.1:p.Val42Ala
XR_939729.1:n.194T>C
XR_939729.2:n.194T>C
NM_032601.4:c.125T>C MANE Select	NP_115990.3:p.Val42Ala