Canonical Allele Identifier: CA9144959

Gene: FCER2

Linked Data

• ClinVar Variation Id: 2361041
• ClinVar RCV Id: RCV004198967
• dbSNP Id: rs144339823
• ExAC: 19:7755117 G / A
• gnomAD v2: 19-7755117-G-A
• gnomAD v3: 19-7690231-G-A
• gnomAD v4: 19-7690231-G-A
• MyVariant Identifiers: chr19:g.7755117G>A (hg19) ; chr19:g.7690231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690231G>A , CM000681.2:g.7690231G>A	GRCh38
NC_000019.9:g.7755117G>A , CM000681.1:g.7755117G>A	GRCh37
NC_000019.8:g.7661117G>A	NCBI36
NG_029554.1:g.16916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.656C>T MANE Select	ENSP00000471974.1:p.Ser219Phe
ENST00000346664.9:c.656C>T	ENSP00000264072.6:p.Ser219Phe
ENST00000360067.8:c.653C>T	ENSP00000353178.4:p.Ser218Phe
ENST00000597312.5:n.1181C>T
ENST00000597921.5:c.656C>T	ENSP00000471974.1:p.Ser219Phe
ENST00000597934.1:n.1018C>T
ENST00000598803.5:n.1151C>T
NM_001207019.2:c.653C>T	NP_001193948.2:p.Ser218Phe
NM_001220500.1:c.656C>T	NP_001207429.1:p.Ser219Phe
NM_002002.4:c.656C>T	NP_001993.2:p.Ser219Phe
XM_005272462.3:c.656C>T	XP_005272519.1:p.Ser219Phe
XM_005272462.4:c.656C>T	XP_005272519.1:p.Ser219Phe
NM_001220500.2:c.656C>T MANE Select	NP_001207429.1:p.Ser219Phe
NM_001207019.3:c.653C>T	NP_001193948.2:p.Ser218Phe
NM_002002.5:c.656C>T	NP_001993.2:p.Ser219Phe