Canonical Allele Identifier: CA347186081

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351352T>G (hg19) ; chr2:g.71124222T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124222T>G , CM000664.2:g.71124222T>G	GRCh38
NC_000002.11:g.71351352T>G , CM000664.1:g.71351352T>G	GRCh37
NC_000002.10:g.71204860T>G	NCBI36
NG_008977.1:g.11043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.362A>C MANE Select	ENSP00000244217.5:p.His121Pro
ENST00000244217.5:c.362A>C	ENSP00000244217.5:p.His121Pro
ENST00000413592.5:c.84+146A>C	ENSP00000391140.1:n.84+146A>C
ENST00000486135.1:c.77A>C	ENSP00000441569.1:p.His26Pro
ENST00000494660.6:c.77A>C	ENSP00000437361.1:p.His26Pro
NM_032601.3:c.362A>C	NP_115990.3:p.His121Pro
XM_005264613.2:c.216+146A>C	XP_005264670.1:n.216+146A>C
XR_939729.1:n.431A>C
XR_939729.2:n.431A>C
NM_032601.4:c.362A>C MANE Select	NP_115990.3:p.His121Pro