Canonical Allele Identifier: CA9144991
Gene: FCER2 HGNC NCBI

Linked Data

dbSNP Id: rs770845770
gnomAD v2: 19-7755289-C-T
gnomAD v3: 19-7690403-C-T
gnomAD v4: 19-7690403-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7690403C>T , CM000681.2:g.7690403C>T GRCh38
NC_000019.9:g.7755289C>T , CM000681.1:g.7755289C>T GRCh37
NC_000019.8:g.7661289C>T NCBI36
NG_029554.1:g.16744G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000597921.6:c.621+3G>A MANE Select ENSP00000471974.1:n.621+3G>A
ENST00000346664.9:c.621+3G>A ENSP00000264072.6:n.621+3G>A
ENST00000360067.8:c.618+3G>A ENSP00000353178.4:n.618+3G>A
ENST00000597312.5:n.1146+3G>A
ENST00000597921.5:c.621+3G>A ENSP00000471974.1:n.621+3G>A
ENST00000597934.1:n.983+3G>A
ENST00000598803.5:n.1116+3G>A
NM_001207019.2:c.618+3G>A NP_001193948.2:n.618+3G>A
NM_001220500.1:c.621+3G>A NP_001207429.1:n.621+3G>A
NM_002002.4:c.621+3G>A NP_001993.2:n.621+3G>A
XM_005272462.3:c.621+3G>A XP_005272519.1:n.621+3G>A
XM_005272462.4:c.621+3G>A XP_005272519.1:n.621+3G>A
NM_001220500.2:c.621+3G>A MANE Select NP_001207429.1:n.621+3G>A
NM_001207019.3:c.618+3G>A NP_001193948.2:n.618+3G>A
NM_002002.5:c.621+3G>A NP_001993.2:n.621+3G>A