Canonical Allele Identifier: CA403109455
Gene: FCER2 HGNC NCBI

Linked Data

dbSNP Id: rs1339628706
gnomAD v2: 19-7755411-T-A
gnomAD v4: 19-7690525-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7690525T>A , CM000681.2:g.7690525T>A GRCh38
NC_000019.9:g.7755411T>A , CM000681.1:g.7755411T>A GRCh37
NC_000019.8:g.7661411T>A NCBI36
NG_029554.1:g.16622A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000597921.6:c.502A>T MANE Select ENSP00000471974.1:p.Ile168Phe
ENST00000346664.9:c.502A>T ENSP00000264072.6:p.Ile168Phe
ENST00000360067.8:c.499A>T ENSP00000353178.4:p.Ile167Phe
ENST00000593418.1:c.439A>T ENSP00000472067.1:p.Ile147Phe
ENST00000597312.5:n.1027A>T
ENST00000597921.5:c.502A>T ENSP00000471974.1:p.Ile168Phe
ENST00000597934.1:n.864A>T
ENST00000598803.5:n.997A>T
NM_001207019.2:c.499A>T NP_001193948.2:p.Ile167Phe
NM_001220500.1:c.502A>T NP_001207429.1:p.Ile168Phe
NM_002002.4:c.502A>T NP_001993.2:p.Ile168Phe
XM_005272462.3:c.502A>T XP_005272519.1:p.Ile168Phe
XM_005272462.4:c.502A>T XP_005272519.1:p.Ile168Phe
NM_001220500.2:c.502A>T MANE Select NP_001207429.1:p.Ile168Phe
NM_001207019.3:c.499A>T NP_001193948.2:p.Ile167Phe
NM_002002.5:c.502A>T NP_001993.2:p.Ile168Phe