Canonical Allele Identifier: CA10112145
Gene: SCARF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2176744
ClinVar RCV Id: RCV002610272
dbSNP Id: rs758888141
ExAC: 22:20779728 C / T
gnomAD v2: 22-20779728-C-T
gnomAD v3: 22-20425438-C-T
gnomAD v4: 22-20425438-C-T
MyVariant Identifiers: chr22:g.20779728C>T (hg19) chr22:g.20425438C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425438C>T , CM000684.2:g.20425438C>T GRCh38
NC_000022.10:g.20779728C>T , CM000684.1:g.20779728C>T GRCh37
NC_000022.9:g.19109728C>T NCBI36
NG_031868.2:g.17422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2538G>A MANE Select ENSP00000477564.2:p.Pro846=
ENST00000615031.4:c.2550G>A ENSP00000479389.1:p.Pro850=
ENST00000622235.4:c.2538G>A ENSP00000477564.1:p.Pro846=
ENST00000623402.1:c.2553G>A ENSP00000485276.1:p.Pro851=
NM_153334.6:c.2553G>A NP_699165.3:p.Pro851=
NM_182895.4:c.2538G>A NP_878315.2:p.Pro846=
NM_153334.7:c.2553G>A NP_699165.3:p.Pro851=
NM_182895.5:c.2538G>A MANE Select NP_878315.2:p.Pro846=
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