Canonical Allele Identifier: CA347186278

Gene: MCEE

Linked Data

• dbSNP Id: rs1177297011
• MyVariant Identifiers: chr2:g.71351368T>G (hg19) ; chr2:g.71124238T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124238T>G , CM000664.2:g.71124238T>G	GRCh38
NC_000002.11:g.71351368T>G , CM000664.1:g.71351368T>G	GRCh37
NC_000002.10:g.71204876T>G	NCBI36
NG_008977.1:g.11027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.346A>C MANE Select	ENSP00000244217.5:p.Lys116Gln
ENST00000244217.5:c.346A>C	ENSP00000244217.5:p.Lys116Gln
ENST00000413592.5:c.84+130A>C	ENSP00000391140.1:n.84+130A>C
ENST00000486135.1:c.61A>C	ENSP00000441569.1:p.Lys21Gln
ENST00000494660.6:c.61A>C	ENSP00000437361.1:p.Lys21Gln
NM_032601.3:c.346A>C	NP_115990.3:p.Lys116Gln
XM_005264613.2:c.216+130A>C	XP_005264670.1:n.216+130A>C
XR_939729.1:n.415A>C
XR_939729.2:n.415A>C
NM_032601.4:c.346A>C MANE Select	NP_115990.3:p.Lys116Gln