Canonical Allele Identifier: CA403109470
Gene: FCER2 HGNC NCBI

Linked Data

gnomAD v4: 19-7690526-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7690526C>G , CM000681.2:g.7690526C>G GRCh38
NC_000019.9:g.7755412C>G , CM000681.1:g.7755412C>G GRCh37
NC_000019.8:g.7661412C>G NCBI36
NG_029554.1:g.16621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000597921.6:c.501G>C MANE Select ENSP00000471974.1:p.Trp167Cys
ENST00000346664.9:c.501G>C ENSP00000264072.6:p.Trp167Cys
ENST00000360067.8:c.498G>C ENSP00000353178.4:p.Trp166Cys
ENST00000593418.1:c.438G>C ENSP00000472067.1:p.Trp146Cys
ENST00000597312.5:n.1026G>C
ENST00000597921.5:c.501G>C ENSP00000471974.1:p.Trp167Cys
ENST00000597934.1:n.863G>C
ENST00000598803.5:n.996G>C
NM_001207019.2:c.498G>C NP_001193948.2:p.Trp166Cys
NM_001220500.1:c.501G>C NP_001207429.1:p.Trp167Cys
NM_002002.4:c.501G>C NP_001993.2:p.Trp167Cys
XM_005272462.3:c.501G>C XP_005272519.1:p.Trp167Cys
XM_005272462.4:c.501G>C XP_005272519.1:p.Trp167Cys
NM_001220500.2:c.501G>C MANE Select NP_001207429.1:p.Trp167Cys
NM_001207019.3:c.498G>C NP_001193948.2:p.Trp166Cys
NM_002002.5:c.501G>C NP_001993.2:p.Trp167Cys