Canonical Allele Identifier: CA2655397124
Gene: SCARF2 HGNC NCBI

Linked Data

gnomAD v4: 22-20425588-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425592dup , CM000684.2:g.20425592dup GRCh38
NC_000022.10:g.20779882dup , CM000684.1:g.20779882dup GRCh37
NC_000022.9:g.19109882dup NCBI36
NG_031868.2:g.17271dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2387dup MANE Select ENSP00000477564.2:p.Pro797AlafsTer29
ENST00000615031.4:c.2399dup ENSP00000479389.1:p.Pro801AlafsTer29
ENST00000622235.4:c.2387dup ENSP00000477564.1:p.Pro797AlafsTer29
ENST00000623402.1:c.2402dup ENSP00000485276.1:p.Pro802AlafsTer29
NM_153334.6:c.2402dup NP_699165.3:p.Pro802AlafsTer29
NM_182895.4:c.2387dup NP_878315.2:p.Pro797AlafsTer29
NM_153334.7:c.2402dup NP_699165.3:p.Pro802AlafsTer29
NM_182895.5:c.2387dup MANE Select NP_878315.2:p.Pro797AlafsTer29
Search 100 bp 5'
Search 100 bp 3'