Canonical Allele Identifier: CA426689869

Gene: MCEE

Linked Data

• MyVariant Identifiers: chr2:g.71351414A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124284A>G , CM000664.2:g.71124284A>G	GRCh38
NC_000002.11:g.71351414A>G , CM000664.1:g.71351414A>G	GRCh37
NC_000002.10:g.71204922A>G	NCBI36
NG_008977.1:g.10981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.300T>C MANE Select	ENSP00000244217.5:p.His100=
ENST00000244217.5:c.300T>C	ENSP00000244217.5:p.His100=
ENST00000413592.5:c.84+84T>C	ENSP00000391140.1:n.84+84T>C
ENST00000486135.1:c.15T>C	ENSP00000441569.1:p.His5=
ENST00000494660.6:c.15T>C	ENSP00000437361.1:p.His5=
NM_032601.3:c.300T>C	NP_115990.3:p.His100=
XM_005264613.2:c.216+84T>C	XP_005264670.1:n.216+84T>C
XR_939729.1:n.369T>C
XR_939729.2:n.369T>C
NM_032601.4:c.300T>C MANE Select	NP_115990.3:p.His100=