Canonical Allele Identifier: CA426690112
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351456A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124326A>C , CM000664.2:g.71124326A>C GRCh38
NC_000002.11:g.71351456A>C , CM000664.1:g.71351456A>C GRCh37
NC_000002.10:g.71204964A>C NCBI36
NG_008977.1:g.10939T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.258T>G MANE Select ENSP00000244217.5:p.Val86=
ENST00000244217.5:c.258T>G ENSP00000244217.5:p.Val86=
ENST00000413592.5:c.84+42T>G ENSP00000391140.1:n.84+42T>G
ENST00000486135.1:c.-28T>G ENSP00000441569.1:n.-28T>G
ENST00000494660.6:c.-28T>G ENSP00000437361.1:n.-28T>G
NM_032601.3:c.258T>G NP_115990.3:p.Val86=
XM_005264613.2:c.216+42T>G XP_005264670.1:n.216+42T>G
XR_939729.1:n.327T>G
XR_939729.2:n.327T>G
NM_032601.4:c.258T>G MANE Select NP_115990.3:p.Val86=