Canonical Allele Identifier: CA426690138
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351471T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124341T>C , CM000664.2:g.71124341T>C GRCh38
NC_000002.11:g.71351471T>C , CM000664.1:g.71351471T>C GRCh37
NC_000002.10:g.71204979T>C NCBI36
NG_008977.1:g.10924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.243A>G MANE Select ENSP00000244217.5:p.Glu81=
ENST00000244217.5:c.243A>G ENSP00000244217.5:p.Glu81=
ENST00000413592.5:c.84+27A>G ENSP00000391140.1:n.84+27A>G
ENST00000486135.1:c.-43A>G ENSP00000441569.1:n.-43A>G
ENST00000494660.6:c.-43A>G ENSP00000437361.1:n.-43A>G
NM_032601.3:c.243A>G NP_115990.3:p.Glu81=
XM_005264613.2:c.216+27A>G XP_005264670.1:n.216+27A>G
XR_939729.1:n.312A>G
XR_939729.2:n.312A>G
NM_032601.4:c.243A>G MANE Select NP_115990.3:p.Glu81=