Canonical Allele Identifier: CA403107138
Gene: FCER2 HGNC NCBI

Linked Data

gnomAD v4: 19-7690225-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7690225A>G , CM000681.2:g.7690225A>G GRCh38
NC_000019.9:g.7755111A>G , CM000681.1:g.7755111A>G GRCh37
NC_000019.8:g.7661111A>G NCBI36
NG_029554.1:g.16922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000597921.6:c.662T>C MANE Select ENSP00000471974.1:p.Ile221Thr
ENST00000346664.9:c.662T>C ENSP00000264072.6:p.Ile221Thr
ENST00000360067.8:c.659T>C ENSP00000353178.4:p.Ile220Thr
ENST00000597312.5:n.1187T>C
ENST00000597921.5:c.662T>C ENSP00000471974.1:p.Ile221Thr
ENST00000597934.1:n.1024T>C
ENST00000598803.5:n.1157T>C
NM_001207019.2:c.659T>C NP_001193948.2:p.Ile220Thr
NM_001220500.1:c.662T>C NP_001207429.1:p.Ile221Thr
NM_002002.4:c.662T>C NP_001993.2:p.Ile221Thr
XM_005272462.3:c.662T>C XP_005272519.1:p.Ile221Thr
XM_005272462.4:c.662T>C XP_005272519.1:p.Ile221Thr
NM_001220500.2:c.662T>C MANE Select NP_001207429.1:p.Ile221Thr
NM_001207019.3:c.659T>C NP_001193948.2:p.Ile220Thr
NM_002002.5:c.662T>C NP_001993.2:p.Ile221Thr