Canonical Allele Identifier: CA10112158
Gene: SCARF2 HGNC NCBI

Linked Data

dbSNP Id: rs112136249
ExAC: 22:20779783 G / T
gnomAD v2: 22-20779783-G-T
gnomAD v3: 22-20425493-G-T
gnomAD v4: 22-20425493-G-T
MyVariant Identifiers: chr22:g.20779783G>T (hg19) chr22:g.20425493G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425493G>T , CM000684.2:g.20425493G>T GRCh38
NC_000022.10:g.20779783G>T , CM000684.1:g.20779783G>T GRCh37
NC_000022.9:g.19109783G>T NCBI36
NG_031868.2:g.17367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2483C>A MANE Select ENSP00000477564.2:p.Ala828Glu
ENST00000615031.4:c.2495C>A ENSP00000479389.1:p.Ala832Glu
ENST00000622235.4:c.2483C>A ENSP00000477564.1:p.Ala828Glu
ENST00000623402.1:c.2498C>A ENSP00000485276.1:p.Ala833Glu
NM_153334.6:c.2498C>A NP_699165.3:p.Ala833Glu
NM_182895.4:c.2483C>A NP_878315.2:p.Ala828Glu
NM_153334.7:c.2498C>A NP_699165.3:p.Ala833Glu
NM_182895.5:c.2483C>A MANE Select NP_878315.2:p.Ala828Glu
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