Canonical Allele Identifier: CA322181848

Gene: SCARF2

Linked Data

• dbSNP Id: rs902199900
• gnomAD v4: 22-20425435-C-T
• MyVariant Identifiers: chr22:g.20779725C>T (hg19) ; chr22:g.20425435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425435C>T , CM000684.2:g.20425435C>T	GRCh38
NC_000022.10:g.20779725C>T , CM000684.1:g.20779725C>T	GRCh37
NC_000022.9:g.19109725C>T	NCBI36
NG_031868.2:g.17425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622235.5:c.2541G>A MANE Select	ENSP00000477564.2:p.Pro847=
ENST00000615031.4:c.2553G>A	ENSP00000479389.1:p.Pro851=
ENST00000622235.4:c.2541G>A	ENSP00000477564.1:p.Pro847=
ENST00000623402.1:c.2556G>A	ENSP00000485276.1:p.Pro852=
NM_153334.6:c.2556G>A	NP_699165.3:p.Pro852=
NM_182895.4:c.2541G>A	NP_878315.2:p.Pro847=
NM_153334.7:c.2556G>A	NP_699165.3:p.Pro852=
NM_182895.5:c.2541G>A MANE Select	NP_878315.2:p.Pro847=