Canonical Allele Identifier: CA403109296

Gene: FCER2

Linked Data

• gnomAD v4: 19-7690510-T-G
• MyVariant Identifiers: chr19:g.7755396T>G (hg19) ; chr19:g.7690510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7690510T>G , CM000681.2:g.7690510T>G	GRCh38
NC_000019.9:g.7755396T>G , CM000681.1:g.7755396T>G	GRCh37
NC_000019.8:g.7661396T>G	NCBI36
NG_029554.1:g.16637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597921.6:c.517A>C MANE Select	ENSP00000471974.1:p.Lys173Gln
ENST00000346664.9:c.517A>C	ENSP00000264072.6:p.Lys173Gln
ENST00000360067.8:c.514A>C	ENSP00000353178.4:p.Lys172Gln
ENST00000593418.1:c.454A>C	ENSP00000472067.1:p.Lys152Gln
ENST00000597312.5:n.1042A>C
ENST00000597921.5:c.517A>C	ENSP00000471974.1:p.Lys173Gln
ENST00000597934.1:n.879A>C
ENST00000598803.5:n.1012A>C
NM_001207019.2:c.514A>C	NP_001193948.2:p.Lys172Gln
NM_001220500.1:c.517A>C	NP_001207429.1:p.Lys173Gln
NM_002002.4:c.517A>C	NP_001993.2:p.Lys173Gln
XM_005272462.3:c.517A>C	XP_005272519.1:p.Lys173Gln
XM_005272462.4:c.517A>C	XP_005272519.1:p.Lys173Gln
NM_001220500.2:c.517A>C MANE Select	NP_001207429.1:p.Lys173Gln
NM_001207019.3:c.514A>C	NP_001193948.2:p.Lys172Gln
NM_002002.5:c.517A>C	NP_001993.2:p.Lys173Gln