Canonical Allele Identifier: CA347188783
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351512T>C (hg19) chr2:g.71124382T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124382T>C , CM000664.2:g.71124382T>C GRCh38
NC_000002.11:g.71351512T>C , CM000664.1:g.71351512T>C GRCh37
NC_000002.10:g.71205020T>C NCBI36
NG_008977.1:g.10883A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.202A>G MANE Select ENSP00000244217.5:p.Ile68Val
ENST00000244217.5:c.202A>G ENSP00000244217.5:p.Ile68Val
ENST00000413592.5:c.70A>G ENSP00000391140.1:p.Ile24Val
ENST00000486135.1:c.-84A>G ENSP00000441569.1:n.-84A>G
ENST00000494660.6:c.-84A>G ENSP00000437361.1:n.-84A>G
NM_032601.3:c.202A>G NP_115990.3:p.Ile68Val
XM_005264613.2:c.202A>G XP_005264670.1:p.Ile68Val
XR_939729.1:n.271A>G
XR_939729.2:n.271A>G
NM_032601.4:c.202A>G MANE Select NP_115990.3:p.Ile68Val
Search 100 bp 5'
Search 100 bp 3'