Canonical Allele Identifier: CA347187416

Gene: MCEE

Linked Data

• dbSNP Id: rs1255407131
• gnomAD v2: 2-71351463-A-G
• gnomAD v4: 2-71124333-A-G
• MyVariant Identifiers: chr2:g.71351463A>G (hg19) ; chr2:g.71124333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124333A>G , CM000664.2:g.71124333A>G	GRCh38
NC_000002.11:g.71351463A>G , CM000664.1:g.71351463A>G	GRCh37
NC_000002.10:g.71204971A>G	NCBI36
NG_008977.1:g.10932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.251T>C MANE Select	ENSP00000244217.5:p.Val84Ala
ENST00000244217.5:c.251T>C	ENSP00000244217.5:p.Val84Ala
ENST00000413592.5:c.84+35T>C	ENSP00000391140.1:n.84+35T>C
ENST00000486135.1:c.-35T>C	ENSP00000441569.1:n.-35T>C
ENST00000494660.6:c.-35T>C	ENSP00000437361.1:n.-35T>C
NM_032601.3:c.251T>C	NP_115990.3:p.Val84Ala
XM_005264613.2:c.216+35T>C	XP_005264670.1:n.216+35T>C
XR_939729.1:n.320T>C
XR_939729.2:n.320T>C
NM_032601.4:c.251T>C MANE Select	NP_115990.3:p.Val84Ala