Canonical Allele Identifier: CA403107270
Gene: FCER2 HGNC NCBI

Linked Data

gnomAD v4: 19-7690234-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7690234C>A , CM000681.2:g.7690234C>A GRCh38
NC_000019.9:g.7755120C>A , CM000681.1:g.7755120C>A GRCh37
NC_000019.8:g.7661120C>A NCBI36
NG_029554.1:g.16913G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000597921.6:c.653G>T MANE Select ENSP00000471974.1:p.Gly218Val
ENST00000346664.9:c.653G>T ENSP00000264072.6:p.Gly218Val
ENST00000360067.8:c.650G>T ENSP00000353178.4:p.Gly217Val
ENST00000597312.5:n.1178G>T
ENST00000597921.5:c.653G>T ENSP00000471974.1:p.Gly218Val
ENST00000597934.1:n.1015G>T
ENST00000598803.5:n.1148G>T
NM_001207019.2:c.650G>T NP_001193948.2:p.Gly217Val
NM_001220500.1:c.653G>T NP_001207429.1:p.Gly218Val
NM_002002.4:c.653G>T NP_001993.2:p.Gly218Val
XM_005272462.3:c.653G>T XP_005272519.1:p.Gly218Val
XM_005272462.4:c.653G>T XP_005272519.1:p.Gly218Val
NM_001220500.2:c.653G>T MANE Select NP_001207429.1:p.Gly218Val
NM_001207019.3:c.650G>T NP_001193948.2:p.Gly217Val
NM_002002.5:c.653G>T NP_001993.2:p.Gly218Val