Canonical Allele Identifier: CA1702628
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs377300377
ExAC: 2:71351514 T / G
gnomAD v2: 2-71351514-T-G
gnomAD v3: 2-71124384-T-G
gnomAD v4: 2-71124384-T-G
MyVariant Identifiers: chr2:g.71351514T>G (hg19) chr2:g.71124384T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124384T>G , CM000664.2:g.71124384T>G GRCh38
NC_000002.11:g.71351514T>G , CM000664.1:g.71351514T>G GRCh37
NC_000002.10:g.71205022T>G NCBI36
NG_008977.1:g.10881A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.200A>C MANE Select ENSP00000244217.5:p.Asn67Thr
ENST00000244217.5:c.200A>C ENSP00000244217.5:p.Asn67Thr
ENST00000413592.5:c.68A>C ENSP00000391140.1:p.Asn23Thr
ENST00000486135.1:c.-86A>C ENSP00000441569.1:n.-86A>C
ENST00000494660.6:c.-86A>C ENSP00000437361.1:n.-86A>C
NM_032601.3:c.200A>C NP_115990.3:p.Asn67Thr
XM_005264613.2:c.200A>C XP_005264670.1:p.Asn67Thr
XR_939729.1:n.269A>C
XR_939729.2:n.269A>C
NM_032601.4:c.200A>C MANE Select NP_115990.3:p.Asn67Thr
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