Canonical Allele Identifier: CA403108823

Gene: FCER2

Linked Data

• dbSNP Id: rs139487727
• gnomAD v2: 19-7755361-C-A
• gnomAD v3: 19-7690475-C-A
• gnomAD v4: 19-7690475-C-A
• MyVariant Identifiers: chr19:g.7755361C>A (hg19) ; chr19:g.7690475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690475C>A , CM000681.2:g.7690475C>A	GRCh38
NC_000019.9:g.7755361C>A , CM000681.1:g.7755361C>A	GRCh37
NC_000019.8:g.7661361C>A	NCBI36
NG_029554.1:g.16672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.552G>T MANE Select	ENSP00000471974.1:p.Trp184Cys
ENST00000346664.9:c.552G>T	ENSP00000264072.6:p.Trp184Cys
ENST00000360067.8:c.549G>T	ENSP00000353178.4:p.Trp183Cys
ENST00000597312.5:n.1077G>T
ENST00000597921.5:c.552G>T	ENSP00000471974.1:p.Trp184Cys
ENST00000597934.1:n.914G>T
ENST00000598803.5:n.1047G>T
NM_001207019.2:c.549G>T	NP_001193948.2:p.Trp183Cys
NM_001220500.1:c.552G>T	NP_001207429.1:p.Trp184Cys
NM_002002.4:c.552G>T	NP_001993.2:p.Trp184Cys
XM_005272462.3:c.552G>T	XP_005272519.1:p.Trp184Cys
XM_005272462.4:c.552G>T	XP_005272519.1:p.Trp184Cys
NM_001220500.2:c.552G>T MANE Select	NP_001207429.1:p.Trp184Cys
NM_001207019.3:c.549G>T	NP_001193948.2:p.Trp183Cys
NM_002002.5:c.552G>T	NP_001993.2:p.Trp184Cys