Canonical Allele Identifier: CA8193451

Gene: PLCG2

Linked Data

• ClinVar Variation Id: 440155
• ClinVar RCV Id: RCV000534947 ; RCV001700400 ; RCV001724036
• dbSNP Id: rs45443101
• ExAC: 16:81922781 A / T
• gnomAD v2: 16-81922781-A-T
• gnomAD v3: 16-81889176-A-T
• gnomAD v4: 16-81889176-A-T
• MyVariant Identifiers: chr16:g.81922781A>T (hg19) ; chr16:g.81889176A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81889176A>T , CM000678.2:g.81889176A>T	GRCh38
NC_000016.9:g.81922781A>T , CM000678.1:g.81922781A>T	GRCh37
NC_000016.8:g.80480282A>T	NCBI36
NG_032019.2:g.155080A>T , LRG_376:g.155080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563193.2:c.770A>T	ENSP00000455533.2:p.His257Leu
ENST00000697561.1:c.*199A>T	ENSP00000513337.1:n.*199A>T
ENST00000697562.1:c.770A>T	ENSP00000513338.1:p.His257Leu
ENST00000697563.1:c.*616A>T	ENSP00000513339.1:n.*616A>T
ENST00000697564.1:c.653A>T	ENSP00000513340.1:p.His218Leu
ENST00000697565.1:n.710A>T
ENST00000697581.1:c.*764A>T	ENSP00000513346.1:n.*764A>T
ENST00000697582.1:c.770A>T	ENSP00000513347.1:p.His257Leu
ENST00000697583.1:c.569A>T	ENSP00000513349.1:p.His190Leu
ENST00000697584.1:c.569A>T	ENSP00000513350.1:p.His190Leu
ENST00000697585.1:c.569A>T	ENSP00000513351.1:p.His190Leu
ENST00000697586.1:c.569A>T	ENSP00000513352.1:p.His190Leu
ENST00000697587.1:c.569A>T	ENSP00000513353.1:p.His190Leu
ENST00000564138.6:c.770A>T MANE Select	ENSP00000482457.1:p.His257Leu
ENST00000359376.7:c.770A>T	ENSP00000352336.4:p.His257Leu
ENST00000563193.1:c.78A>T
ENST00000564138.5:c.770A>T	ENSP00000482457.1:p.His257Leu
ENST00000567980.5:n.1014A>T
NM_002661.4:c.770A>T	NP_002652.2:p.His257Leu
XM_011523108.1:c.884A>T	XP_011521410.1:p.His295Leu
NM_002661.5:c.770A>T MANE Select	NP_002652.2:p.His257Leu