Canonical Allele Identifier: CA533243308
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1418139660
gnomAD v2: 2-71351179-T-C
gnomAD v3: 2-71124049-T-C
gnomAD v4: 2-71124049-T-C
MyVariant Identifiers: chr2:g.71351179T>C (hg19) chr2:g.71124049T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124049T>C , CM000664.2:g.71124049T>C GRCh38
NC_000002.11:g.71351179T>C , CM000664.1:g.71351179T>C GRCh37
NC_000002.10:g.71204687T>C NCBI36
NG_008977.1:g.11216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+157A>G MANE Select ENSP00000244217.5:n.378+157A>G
ENST00000244217.5:c.378+157A>G ENSP00000244217.5:n.378+157A>G
ENST00000413592.5:c.84+319A>G ENSP00000391140.1:n.84+319A>G
NM_032601.3:c.378+157A>G NP_115990.3:n.378+157A>G
XM_005264613.2:c.216+319A>G XP_005264670.1:n.216+319A>G
XR_939729.1:n.447+157A>G
XR_939729.2:n.447+157A>G
NM_032601.4:c.378+157A>G MANE Select NP_115990.3:n.378+157A>G
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