Canonical Allele Identifier: CA1702627
Gene: MCEE HGNC NCBI

Linked Data

ClinVar Variation Id: 3003299
ClinVar RCV Id: RCV003867914
dbSNP Id: rs766048433
ExAC: 2:71351504 C / T
gnomAD v2: 2-71351504-C-T
gnomAD v4: 2-71124374-C-T
MyVariant Identifiers: chr2:g.71351504C>T (hg19) chr2:g.71124374C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124374C>T , CM000664.2:g.71124374C>T GRCh38
NC_000002.11:g.71351504C>T , CM000664.1:g.71351504C>T GRCh37
NC_000002.10:g.71205012C>T NCBI36
NG_008977.1:g.10891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.210G>A MANE Select ENSP00000244217.5:p.Gly70=
ENST00000244217.5:c.210G>A ENSP00000244217.5:p.Gly70=
ENST00000413592.5:c.78G>A ENSP00000391140.1:p.Gly26=
ENST00000486135.1:c.-76G>A ENSP00000441569.1:n.-76G>A
ENST00000494660.6:c.-76G>A ENSP00000437361.1:n.-76G>A
NM_032601.3:c.210G>A NP_115990.3:p.Gly70=
XM_005264613.2:c.210G>A XP_005264670.1:p.Gly70=
XR_939729.1:n.279G>A
XR_939729.2:n.279G>A
NM_032601.4:c.210G>A MANE Select NP_115990.3:p.Gly70=
Search 100 bp 5'
Search 100 bp 3'