Canonical Allele Identifier: CA347190033
Gene: MCEE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.71351650G>C (hg19) chr2:g.71124520G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124520G>C , CM000664.2:g.71124520G>C GRCh38
NC_000002.11:g.71351650G>C , CM000664.1:g.71351650G>C GRCh37
NC_000002.10:g.71205158G>C NCBI36
NG_008977.1:g.10745C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.64C>G MANE Select ENSP00000244217.5:p.Pro22Ala
ENST00000244217.5:c.64C>G ENSP00000244217.5:p.Pro22Ala
ENST00000486135.1:c.-222C>G ENSP00000441569.1:n.-222C>G
ENST00000494660.6:c.-222C>G ENSP00000437361.1:n.-222C>G
NM_032601.3:c.64C>G NP_115990.3:p.Pro22Ala
XM_005264613.2:c.64C>G XP_005264670.1:p.Pro22Ala
XR_939729.1:n.133C>G
XR_939729.2:n.133C>G
NM_032601.4:c.64C>G MANE Select NP_115990.3:p.Pro22Ala
Search 100 bp 5'
Search 100 bp 3'