Canonical Allele Identifier: CA426691763
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351600C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124470C>T , CM000664.2:g.71124470C>T GRCh38
NC_000002.11:g.71351600C>T , CM000664.1:g.71351600C>T GRCh37
NC_000002.10:g.71205108C>T NCBI36
NG_008977.1:g.10795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.114G>A MANE Select ENSP00000244217.5:p.Val38=
ENST00000244217.5:c.114G>A ENSP00000244217.5:p.Val38=
ENST00000486135.1:c.-172G>A ENSP00000441569.1:n.-172G>A
ENST00000494660.6:c.-172G>A ENSP00000437361.1:n.-172G>A
NM_032601.3:c.114G>A NP_115990.3:p.Val38=
XM_005264613.2:c.114G>A XP_005264670.1:p.Val38=
XR_939729.1:n.183G>A
XR_939729.2:n.183G>A
NM_032601.4:c.114G>A MANE Select NP_115990.3:p.Val38=