Canonical Allele Identifier: CA80507533

Gene: PHLDB2

Linked Data

• dbSNP Id: rs951660
• gnomAD v2: 3-111638132-A-C
• gnomAD v3: 3-111919285-A-C
• gnomAD v4: 3-111919285-A-C
• MyVariant Identifiers: chr3:g.111638132A>C (hg19) ; chr3:g.111919285A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.111919285A>C , CM000665.2:g.111919285A>C	GRCh38
NC_000003.11:g.111638132A>C , CM000665.1:g.111638132A>C	GRCh37
NC_000003.10:g.113120822A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000431670.7:c.1863+70A>C MANE Select	ENSP00000405405.2:n.1863+70A>C
ENST00000478733.6:c.1223+70A>C
ENST00000393923.7:c.1944+70A>C	ENSP00000377500.3:n.1944+70A>C
ENST00000393925.7:c.1863+70A>C	ENSP00000377502.3:n.1863+70A>C
ENST00000412622.5:c.1863+70A>C	ENSP00000405292.1:n.1863+70A>C
ENST00000431670.6:c.1863+70A>C	ENSP00000405405.2:n.1863+70A>C
ENST00000481953.5:c.1863+70A>C	ENSP00000418319.1:n.1863+70A>C
ENST00000495180.1:c.621+70A>C	ENSP00000420303.1:n.621+70A>C
ENST00000498699.5:c.1863+70A>C	ENSP00000418296.1:n.1863+70A>C
NM_001134437.1:c.1944+70A>C	NP_001127909.1:n.1944+70A>C
NM_001134438.1:c.1863+70A>C	NP_001127910.1:n.1863+70A>C
NM_001134439.1:c.1863+70A>C	NP_001127911.1:n.1863+70A>C
NM_145753.2:c.1863+70A>C	NP_665696.1:n.1863+70A>C
NM_001134437.2:c.1944+70A>C	NP_001127909.1:n.1944+70A>C
NM_001134438.2:c.1863+70A>C MANE Select	NP_001127910.1:n.1863+70A>C
NM_001134439.2:c.1863+70A>C	NP_001127911.1:n.1863+70A>C