Canonical Allele Identifier: CA513694387
Gene: SCARF2 HGNC NCBI

Linked Data

gnomAD v4: 22-20425537-G-T
MyVariant Identifiers: chr22:g.20779827G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425537G>T , CM000684.2:g.20425537G>T GRCh38
NC_000022.10:g.20779827G>T , CM000684.1:g.20779827G>T GRCh37
NC_000022.9:g.19109827G>T NCBI36
NG_031868.2:g.17323C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622235.5:c.2439C>A MANE Select ENSP00000477564.2:p.Ala813=
ENST00000615031.4:c.2451C>A ENSP00000479389.1:p.Ala817=
ENST00000622235.4:c.2439C>A ENSP00000477564.1:p.Ala813=
ENST00000623402.1:c.2454C>A ENSP00000485276.1:p.Ala818=
NM_153334.6:c.2454C>A NP_699165.3:p.Ala818=
NM_182895.4:c.2439C>A NP_878315.2:p.Ala813=
NM_153334.7:c.2454C>A NP_699165.3:p.Ala818=
NM_182895.5:c.2439C>A MANE Select NP_878315.2:p.Ala813=
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