Canonical Allele Identifier: CA15161550
Gene: MRPL33 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.27772914A>C
GRCh37 chr2:g.27995781A>C
gnomAD v2:
2:27995781 A / C
gnomAD v3:
2:27772914 A / C
gnomAD v4:
chr2-27772914-A-C
Joint Max Group AF 0.73920429 (NFE)
Genomes Max Group AF 0.73516334 (NFE)
Exomes Max Group AF 0.73920806 (NFE)
dbSNP:
3736594
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27772914A>C , CM000664.2:g.27772914A>C GRCh38
NC_000002.11:g.27995781A>C , CM000664.1:g.27995781A>C GRCh37
NC_000002.10:g.27849285A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296102.8:c.41+222A>C MANE Select ENSP00000296102.3:n.41+222A>C
ENST00000296102.7:c.41+222A>C ENSP00000296102.3:n.41+222A>C
ENST00000379666.7:c.41+222A>C ENSP00000368988.3:n.41+222A>C
ENST00000448427.1:c.41+222A>C ENSP00000407385.1:n.41+222A>C
ENST00000476552.1:n.215+222A>C
ENST00000483992.5:n.430+222A>C
NM_004891.3:c.41+222A>C NP_004882.1:n.41+222A>C
NM_145330.2:c.41+222A>C NP_663303.1:n.41+222A>C
NM_004891.4:c.41+222A>C MANE Select NP_004882.1:n.41+222A>C
NM_145330.3:c.41+222A>C NP_663303.1:n.41+222A>C
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