Canonical Allele Identifier: CA403109242

Gene: FCER2

Linked Data

• ClinVar Variation Id: 2243089
• ClinVar RCV Id: RCV004105744
• dbSNP Id: rs1400063852
• gnomAD v2: 19-7755393-A-T
• gnomAD v4: 19-7690507-A-T
• MyVariant Identifiers: chr19:g.7755393A>T (hg19) ; chr19:g.7690507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690507A>T , CM000681.2:g.7690507A>T	GRCh38
NC_000019.9:g.7755393A>T , CM000681.1:g.7755393A>T	GRCh37
NC_000019.8:g.7661393A>T	NCBI36
NG_029554.1:g.16640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.520T>A MANE Select	ENSP00000471974.1:p.Cys174Ser
ENST00000346664.9:c.520T>A	ENSP00000264072.6:p.Cys174Ser
ENST00000360067.8:c.517T>A	ENSP00000353178.4:p.Cys173Ser
ENST00000593418.1:c.457T>A	ENSP00000472067.1:p.Cys153Ser
ENST00000597312.5:n.1045T>A
ENST00000597921.5:c.520T>A	ENSP00000471974.1:p.Cys174Ser
ENST00000597934.1:n.882T>A
ENST00000598803.5:n.1015T>A
NM_001207019.2:c.517T>A	NP_001193948.2:p.Cys173Ser
NM_001220500.1:c.520T>A	NP_001207429.1:p.Cys174Ser
NM_002002.4:c.520T>A	NP_001993.2:p.Cys174Ser
XM_005272462.3:c.520T>A	XP_005272519.1:p.Cys174Ser
XM_005272462.4:c.520T>A	XP_005272519.1:p.Cys174Ser
NM_001220500.2:c.520T>A MANE Select	NP_001207429.1:p.Cys174Ser
NM_001207019.3:c.517T>A	NP_001193948.2:p.Cys173Ser
NM_002002.5:c.520T>A	NP_001993.2:p.Cys174Ser