Canonical Allele Identifier: CA304907417

Gene: FCER2

Linked Data

• dbSNP Id: rs901899946
• gnomAD v2: 19-7763260-C-T
• gnomAD v4: 19-7698374-C-T
• MyVariant Identifiers: chr19:g.7763260C>T (hg19) ; chr19:g.7763260_7763262delinsTTT (hg19) ; chr19:g.7698374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7698374C>T , CM000681.2:g.7698374C>T	GRCh38
NC_000019.9:g.7763260C>T , CM000681.1:g.7763260C>T	GRCh37
NC_000019.8:g.7669260C>T	NCBI36
NG_029554.1:g.8773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.172G>A MANE Select	ENSP00000471974.1:p.Glu58Lys
ENST00000346664.9:c.172G>A	ENSP00000264072.6:p.Glu58Lys
ENST00000360067.8:c.169G>A	ENSP00000353178.4:p.Glu57Lys
ENST00000593418.1:c.172G>A	ENSP00000472067.1:p.Glu58Lys
ENST00000597312.5:n.697G>A
ENST00000597921.5:c.172G>A	ENSP00000471974.1:p.Glu58Lys
ENST00000597934.1:n.374G>A
ENST00000598803.5:n.667G>A
NM_001207019.2:c.169G>A	NP_001193948.2:p.Glu57Lys
NM_001220500.1:c.172G>A	NP_001207429.1:p.Glu58Lys
NM_002002.4:c.172G>A	NP_001993.2:p.Glu58Lys
XM_005272462.3:c.172G>A	XP_005272519.1:p.Glu58Lys
XM_005272462.4:c.172G>A	XP_005272519.1:p.Glu58Lys
NM_001220500.2:c.172G>A MANE Select	NP_001207429.1:p.Glu58Lys
NM_001207019.3:c.169G>A	NP_001193948.2:p.Glu57Lys
NM_002002.5:c.172G>A	NP_001993.2:p.Glu58Lys