Canonical Allele Identifier: CA16938545

Gene: PLCH2

Linked Data

• dbSNP Id: rs376305599
• gnomAD v3: 1-2461258-C-T
• gnomAD v4: 1-2461258-C-T
• MyVariant Identifiers: chr1:g.2392697C>T (hg19) ; chr1:g.2461258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2461258C>T , CM000663.2:g.2461258C>T	GRCh38
NC_000001.10:g.2392697C>T , CM000663.1:g.2392697C>T	GRCh37
NC_000001.9:g.2382557C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000609981.5:c.116-17218C>T	ENSP00000476436.1:n.116-17218C>T
XM_011542449.1:c.365-17218C>T	XP_011540751.1:n.365-17218C>T
XM_011542450.1:c.365-17218C>T	XP_011540752.1:n.365-17218C>T
XM_011542452.1:c.32-17218C>T	XP_011540754.1:n.32-17218C>T
XM_011542454.1:c.365-17218C>T	XP_011540756.1:n.365-17218C>T
XM_011542455.1:c.116-17218C>T	XP_011540757.1:n.116-17218C>T
XM_011542456.1:c.116-17218C>T	XP_011540758.1:n.116-17218C>T
XM_011542457.1:c.365-17218C>T	XP_011540759.1:n.365-17218C>T
XM_011542459.1:c.365-17218C>T	XP_011540761.1:n.365-17218C>T
XM_011542460.1:c.365-17218C>T	XP_011540762.1:n.365-17218C>T
XR_946803.1:n.392-17218C>T
XM_017002870.1:c.410-17218C>T	XP_016858359.1:n.410-17218C>T
XM_017002872.1:c.410-17218C>T	XP_016858361.1:n.410-17218C>T
XM_017002873.1:c.410-17218C>T	XP_016858362.1:n.410-17218C>T
XM_017002874.1:c.410-17218C>T	XP_016858363.1:n.410-17218C>T
XM_024451058.1:c.386-17218C>T	XP_024306826.1:n.386-17218C>T
XM_024451059.1:c.410-17218C>T	XP_024306827.1:n.410-17218C>T
XM_024451060.1:c.116-17218C>T	XP_024306828.1:n.116-17218C>T
XM_024451061.1:c.116-17218C>T	XP_024306829.1:n.116-17218C>T
XM_024451062.1:c.410-17218C>T	XP_024306830.1:n.410-17218C>T
XM_024451063.1:c.410-17218C>T	XP_024306831.1:n.410-17218C>T
XM_024451064.1:c.410-17218C>T	XP_024306832.1:n.410-17218C>T