Canonical Allele Identifier: CA410739418

Gene: SCARF2

Linked Data

• gnomAD v4: 22-20425843-G-T
• MyVariant Identifiers: chr22:g.20780130G>T (hg19) ; chr22:g.20425843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425843G>T , CM000684.2:g.20425843G>T	GRCh38
NC_000022.10:g.20780130G>T , CM000684.1:g.20780130G>T	GRCh37
NC_000022.9:g.19110130G>T	NCBI36
NG_031868.2:g.17017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2133C>A MANE Select	ENSP00000477564.2:p.His711Gln
ENST00000615031.4:c.2148C>A	ENSP00000479389.1:p.His716Gln
ENST00000622235.4:c.2133C>A	ENSP00000477564.1:p.His711Gln
ENST00000623402.1:c.2148C>A	ENSP00000485276.1:p.His716Gln
NM_153334.6:c.2148C>A	NP_699165.3:p.His716Gln
NM_182895.4:c.2133C>A	NP_878315.2:p.His711Gln
NM_153334.7:c.2148C>A	NP_699165.3:p.His716Gln
NM_182895.5:c.2133C>A MANE Select	NP_878315.2:p.His711Gln