Canonical Allele Identifier: CA9145000

Gene: FCER2

Linked Data

• dbSNP Id: rs771142988
• ExAC: 19:7755317 AC / A
• gnomAD v2: 19-7755317-AC-A
• gnomAD v4: 19-7690431-AC-A
• MyVariant Identifiers: chr19:g.7755318del (hg19) ; chr19:g.7690432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690433del , CM000681.2:g.7690433del	GRCh38
NC_000019.9:g.7755319del , CM000681.1:g.7755319del	GRCh37
NC_000019.8:g.7661319del	NCBI36
NG_029554.1:g.16715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.595del MANE Select	ENSP00000471974.1:p.Val199SerfsTer12
ENST00000346664.9:c.595del	ENSP00000264072.6:p.Val199SerfsTer12
ENST00000360067.8:c.592del	ENSP00000353178.4:p.Val198SerfsTer12
ENST00000597312.5:n.1120del
ENST00000597921.5:c.595del	ENSP00000471974.1:p.Val199SerfsTer12
ENST00000597934.1:n.957del
ENST00000598803.5:n.1090del
NM_001207019.2:c.592del	NP_001193948.2:p.Val198SerfsTer12
NM_001220500.1:c.595del	NP_001207429.1:p.Val199SerfsTer12
NM_002002.4:c.595del	NP_001993.2:p.Val199SerfsTer12
XM_005272462.3:c.595del	XP_005272519.1:p.Val199SerfsTer12
XM_005272462.4:c.595del	XP_005272519.1:p.Val199SerfsTer12
NM_001220500.2:c.595del MANE Select	NP_001207429.1:p.Val199SerfsTer12
NM_001207019.3:c.592del	NP_001193948.2:p.Val198SerfsTer12
NM_002002.5:c.595del	NP_001993.2:p.Val199SerfsTer12