Canonical Allele Identifier: CA10112160

Gene: SCARF2

Linked Data

• dbSNP Id: rs760544553
• ExAC: 22:20779791 C / A
• gnomAD v4: 22-20425501-C-A
• MyVariant Identifiers: chr22:g.20779791C>A (hg19) ; chr22:g.20425501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425501C>A , CM000684.2:g.20425501C>A	GRCh38
NC_000022.10:g.20779791C>A , CM000684.1:g.20779791C>A	GRCh37
NC_000022.9:g.19109791C>A	NCBI36
NG_031868.2:g.17359G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2475G>T MANE Select	ENSP00000477564.2:p.Glu825Asp
ENST00000615031.4:c.2487G>T	ENSP00000479389.1:p.Glu829Asp
ENST00000622235.4:c.2475G>T	ENSP00000477564.1:p.Glu825Asp
ENST00000623402.1:c.2490G>T	ENSP00000485276.1:p.Glu830Asp
NM_153334.6:c.2490G>T	NP_699165.3:p.Glu830Asp
NM_182895.4:c.2475G>T	NP_878315.2:p.Glu825Asp
NM_153334.7:c.2490G>T	NP_699165.3:p.Glu830Asp
NM_182895.5:c.2475G>T MANE Select	NP_878315.2:p.Glu825Asp