Canonical Allele Identifier: CA70814599

Gene: PLCL2

Linked Data

• dbSNP Id: rs778571940
• gnomAD v2: 3-16938683-C-T
• gnomAD v3: 3-16897185-C-T
• gnomAD v4: 3-16897185-C-T
• MyVariant Identifiers: chr3:g.16938683C>T (hg19) ; chr3:g.16897185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.16897185C>T , CM000665.2:g.16897185C>T	GRCh38
NC_000003.11:g.16938683C>T , CM000665.1:g.16938683C>T	GRCh37
NC_000003.10:g.16913687C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615277.5:c.327+11819C>T MANE Select	ENSP00000478458.1:n.327+11819C>T
ENST00000460467.1:n.438+94097C>T
ENST00000615277.4:c.327+11819C>T	ENSP00000478458.1:n.327+11819C>T
NM_001144382.1:c.327+11819C>T	NP_001137854.1:n.327+11819C>T
XM_006713073.3:c.-2488C>T	XP_006713136.1:n.-2488C>T
XM_017006022.2:c.327+11819C>T	XP_016861511.1:n.327+11819C>T
XM_017006023.1:c.327+11819C>T	XP_016861512.1:n.327+11819C>T
XM_017006024.2:c.327+11819C>T	XP_016861513.1:n.327+11819C>T
XM_017006025.1:c.-2655C>T	XP_016861514.1:n.-2655C>T
NM_001144382.2:c.327+11819C>T MANE Select	NP_001137854.1:n.327+11819C>T