Canonical Allele Identifier: CA10112172

Gene: SCARF2

Linked Data

• ClinVar Variation Id: 518325
• ClinVar RCV Id: RCV001653951 ; RCV001724092
• dbSNP Id: rs874100
• ExAC: 22:20779822 G / C
• gnomAD v2: 22-20779822-G-C
• gnomAD v3: 22-20425532-G-C
• gnomAD v4: 22-20425532-G-C
• MyVariant Identifiers: chr22:g.20779822G>C (hg19) ; chr22:g.20425532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20425532G>C , CM000684.2:g.20425532G>C	GRCh38
NC_000022.10:g.20779822G>C , CM000684.1:g.20779822G>C	GRCh37
NC_000022.9:g.19109822G>C	NCBI36
NG_031868.2:g.17328C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622235.5:c.2444C>G MANE Select	ENSP00000477564.2:p.Ala815Gly
ENST00000615031.4:c.2456C>G	ENSP00000479389.1:p.Ala819Gly
ENST00000622235.4:c.2444C>G	ENSP00000477564.1:p.Ala815Gly
ENST00000623402.1:c.2459C>G	ENSP00000485276.1:p.Ala820Gly
NM_153334.6:c.2459C>G	NP_699165.3:p.Ala820Gly
NM_182895.4:c.2444C>G	NP_878315.2:p.Ala815Gly
NM_153334.7:c.2459C>G	NP_699165.3:p.Ala820Gly
NM_182895.5:c.2444C>G MANE Select	NP_878315.2:p.Ala815Gly