Canonical Allele Identifier: CA10112237

Gene: SCARF2

Linked Data

• ClinVar Variation Id: 2652896
• ClinVar RCV Id: RCV003437483
• dbSNP Id: rs778525967
• ExAC: 22:20780202 G / A
• gnomAD v2: 22-20780202-G-A
• gnomAD v3: 22-20425915-G-A
• gnomAD v4: 22-20425915-G-A
• MyVariant Identifiers: chr22:g.20780202G>A (hg19) ; chr22:g.20425915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425915G>A , CM000684.2:g.20425915G>A	GRCh38
NC_000022.10:g.20780202G>A , CM000684.1:g.20780202G>A	GRCh37
NC_000022.9:g.19110202G>A	NCBI36
NG_031868.2:g.16945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622235.5:c.2061C>T MANE Select	ENSP00000477564.2:p.Gly687=
ENST00000615031.4:c.2076C>T	ENSP00000479389.1:p.Gly692=
ENST00000622235.4:c.2061C>T	ENSP00000477564.1:p.Gly687=
ENST00000623402.1:c.2076C>T	ENSP00000485276.1:p.Gly692=
NM_153334.6:c.2076C>T	NP_699165.3:p.Gly692=
NM_182895.4:c.2061C>T	NP_878315.2:p.Gly687=
NM_153334.7:c.2076C>T	NP_699165.3:p.Gly692=
NM_182895.5:c.2061C>T MANE Select	NP_878315.2:p.Gly687=