Canonical Allele Identifier: CA347185823
Gene: MCEE HGNC NCBI

Linked Data

gnomAD v4: 2-71124205-C-T
MyVariant Identifiers: chr2:g.71351335C>T (hg19) chr2:g.71124205C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124205C>T , CM000664.2:g.71124205C>T GRCh38
NC_000002.11:g.71351335C>T , CM000664.1:g.71351335C>T GRCh37
NC_000002.10:g.71204843C>T NCBI36
NG_008977.1:g.11060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+1G>A MANE Select ENSP00000244217.5:n.378+1G>A
ENST00000244217.5:c.378+1G>A ENSP00000244217.5:n.378+1G>A
ENST00000413592.5:c.84+163G>A ENSP00000391140.1:n.84+163G>A
NM_032601.3:c.378+1G>A NP_115990.3:n.378+1G>A
XM_005264613.2:c.216+163G>A XP_005264670.1:n.216+163G>A
XR_939729.1:n.447+1G>A
XR_939729.2:n.447+1G>A
NM_032601.4:c.378+1G>A MANE Select NP_115990.3:n.378+1G>A
Search 100 bp 5'
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