Canonical Allele Identifier: CA9145236

Gene: FCER2

Linked Data

• dbSNP Id: rs753255183
• ExAC: 19:7763255 C / T
• gnomAD v2: 19-7763255-C-T
• gnomAD v4: 19-7698369-C-T
• COSMIC: COSM6017171
• MyVariant Identifiers: chr19:g.7763255C>T (hg19) ; chr19:g.7698369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7698369C>T , CM000681.2:g.7698369C>T	GRCh38
NC_000019.9:g.7763255C>T , CM000681.1:g.7763255C>T	GRCh37
NC_000019.8:g.7669255C>T	NCBI36
NG_029554.1:g.8778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.177G>A MANE Select	ENSP00000471974.1:p.Arg59=
ENST00000346664.9:c.177G>A	ENSP00000264072.6:p.Arg59=
ENST00000360067.8:c.174G>A	ENSP00000353178.4:p.Arg58=
ENST00000593418.1:c.177G>A	ENSP00000472067.1:p.Arg59=
ENST00000597312.5:n.702G>A
ENST00000597921.5:c.177G>A	ENSP00000471974.1:p.Arg59=
ENST00000597934.1:n.379G>A
ENST00000598803.5:n.672G>A
NM_001207019.2:c.174G>A	NP_001193948.2:p.Arg58=
NM_001220500.1:c.177G>A	NP_001207429.1:p.Arg59=
NM_002002.4:c.177G>A	NP_001993.2:p.Arg59=
XM_005272462.3:c.177G>A	XP_005272519.1:p.Arg59=
XM_005272462.4:c.177G>A	XP_005272519.1:p.Arg59=
NM_001220500.2:c.177G>A MANE Select	NP_001207429.1:p.Arg59=
NM_001207019.3:c.174G>A	NP_001193948.2:p.Arg58=
NM_002002.5:c.177G>A	NP_001993.2:p.Arg59=