Canonical Allele Identifier: CA426690982
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351525T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124395T>C , CM000664.2:g.71124395T>C GRCh38
NC_000002.11:g.71351525T>C , CM000664.1:g.71351525T>C GRCh37
NC_000002.10:g.71205033T>C NCBI36
NG_008977.1:g.10870A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.189A>G MANE Select ENSP00000244217.5:p.Ala63=
ENST00000244217.5:c.189A>G ENSP00000244217.5:p.Ala63=
ENST00000413592.5:c.57A>G ENSP00000391140.1:p.Ala19=
ENST00000486135.1:c.-97A>G ENSP00000441569.1:n.-97A>G
ENST00000494660.6:c.-97A>G ENSP00000437361.1:n.-97A>G
NM_032601.3:c.189A>G NP_115990.3:p.Ala63=
XM_005264613.2:c.189A>G XP_005264670.1:p.Ala63=
XR_939729.1:n.258A>G
XR_939729.2:n.258A>G
NM_032601.4:c.189A>G MANE Select NP_115990.3:p.Ala63=