Canonical Allele Identifier: CA9144996

Gene: FCER2

Linked Data

• dbSNP Id: rs565338813
• ExAC: 19:7755302 G / A
• gnomAD v2: 19-7755302-G-A
• gnomAD v3: 19-7690416-G-A
• gnomAD v4: 19-7690416-G-A
• MyVariant Identifiers: chr19:g.7755302G>A (hg19) ; chr19:g.7690416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690416G>A , CM000681.2:g.7690416G>A	GRCh38
NC_000019.9:g.7755302G>A , CM000681.1:g.7755302G>A	GRCh37
NC_000019.8:g.7661302G>A	NCBI36
NG_029554.1:g.16731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.611C>T MANE Select	ENSP00000471974.1:p.Pro204Leu
ENST00000346664.9:c.611C>T	ENSP00000264072.6:p.Pro204Leu
ENST00000360067.8:c.608C>T	ENSP00000353178.4:p.Pro203Leu
ENST00000597312.5:n.1136C>T
ENST00000597921.5:c.611C>T	ENSP00000471974.1:p.Pro204Leu
ENST00000597934.1:n.973C>T
ENST00000598803.5:n.1106C>T
NM_001207019.2:c.608C>T	NP_001193948.2:p.Pro203Leu
NM_001220500.1:c.611C>T	NP_001207429.1:p.Pro204Leu
NM_002002.4:c.611C>T	NP_001993.2:p.Pro204Leu
XM_005272462.3:c.611C>T	XP_005272519.1:p.Pro204Leu
XM_005272462.4:c.611C>T	XP_005272519.1:p.Pro204Leu
NM_001220500.2:c.611C>T MANE Select	NP_001207429.1:p.Pro204Leu
NM_001207019.3:c.608C>T	NP_001193948.2:p.Pro203Leu
NM_002002.5:c.611C>T	NP_001993.2:p.Pro204Leu