Canonical Allele Identifier: CA1702620

Gene: MCEE

Linked Data

• dbSNP Id: rs776823339
• ExAC: 2:71351469 T / C
• gnomAD v4: 2-71124339-T-C
• MyVariant Identifiers: chr2:g.71351469T>C (hg19) ; chr2:g.71124339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124339T>C , CM000664.2:g.71124339T>C	GRCh38
NC_000002.11:g.71351469T>C , CM000664.1:g.71351469T>C	GRCh37
NC_000002.10:g.71204977T>C	NCBI36
NG_008977.1:g.10926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.245A>G MANE Select	ENSP00000244217.5:p.His82Arg
ENST00000244217.5:c.245A>G	ENSP00000244217.5:p.His82Arg
ENST00000413592.5:c.84+29A>G	ENSP00000391140.1:n.84+29A>G
ENST00000486135.1:c.-41A>G	ENSP00000441569.1:n.-41A>G
ENST00000494660.6:c.-41A>G	ENSP00000437361.1:n.-41A>G
NM_032601.3:c.245A>G	NP_115990.3:p.His82Arg
XM_005264613.2:c.216+29A>G	XP_005264670.1:n.216+29A>G
XR_939729.1:n.314A>G
XR_939729.2:n.314A>G
NM_032601.4:c.245A>G MANE Select	NP_115990.3:p.His82Arg