Canonical Allele Identifier: CA638940763

Gene: SCARF2

Linked Data

• dbSNP Id: rs1428594743
• gnomAD v2: 22-20780023-G-GA
• MyVariant Identifiers: chr22:g.20780023_20780024insA (hg19) ; chr22:g.20425734_20425735insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425734_20425735insA , CM000684.2:g.20425734_20425735insA	GRCh38
NC_000022.10:g.20780023_20780024insA , CM000684.1:g.20780023_20780024insA	GRCh37
NC_000022.9:g.19110023_19110024insA	NCBI36
NG_031868.2:g.17125_17126insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2241_2242insT MANE Select	ENSP00000477564.2:p.Pro748SerfsTer26
ENST00000615031.4:c.2254_2255insT	ENSP00000479389.1:p.Pro752LeufsTer26
ENST00000622235.4:c.2241_2242insT	ENSP00000477564.1:p.Pro748SerfsTer26
ENST00000623402.1:c.2256_2257insT	ENSP00000485276.1:p.Pro753SerfsTer26
NM_153334.6:c.2256_2257insT	NP_699165.3:p.Pro753SerfsTer26
NM_182895.4:c.2241_2242insT	NP_878315.2:p.Pro748SerfsTer26
NM_153334.7:c.2256_2257insT	NP_699165.3:p.Pro753SerfsTer26
NM_182895.5:c.2241_2242insT MANE Select	NP_878315.2:p.Pro748SerfsTer26