Canonical Allele Identifier: CA399261943

Gene: PGAP3 ERBB2

Linked Data

• gnomAD v4: 17-39687939-C-T
• MyVariant Identifiers: chr17:g.37844192C>T (hg19) ; chr17:g.39687939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687939C>T , CM000679.2:g.39687939C>T	GRCh38
NC_000017.10:g.37844192C>T , CM000679.1:g.37844192C>T	GRCh37
NC_000017.9:g.35097718C>T	NCBI36
NG_007503.1:g.4800C>T , LRG_724:g.4800C>T
NG_034125.1:g.5132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.76G>A (PGAP3) MANE Select	ENSP00000300658.4:p.Glu26Lys
ENST00000300658.8:c.76G>A (PGAP3)	ENSP00000300658.4:p.Glu26Lys
ENST00000309862.10:n.119G>A (PGAP3)
ENST00000378011.8:c.76G>A (PGAP3)	ENSP00000367250.4:p.Glu26Lys
ENST00000429199.6:c.76G>A (PGAP3)	ENSP00000415765.2:p.Glu26Lys
ENST00000579146.5:c.76G>A (PGAP3)	ENSP00000463234.1:p.Glu26Lys
ENST00000582276.1:n.111G>A (PGAP3)
ENST00000584601.5:c.-772C>T (ERBB2)	ENSP00000462438.1:n.-772C>T
ENST00000584620.5:c.63G>A (PGAP3)
ENST00000584856.1:c.-35-1920G>A (PGAP3)	ENSP00000463785.1:n.-35-1920G>A
ENST00000614824.4:c.76G>A (PGAP3)	ENSP00000480165.1:p.Glu26Lys
NM_001291726.1:c.76G>A (PGAP3)	NP_001278655.1:p.Glu26Lys
NM_001291728.1:c.76G>A (PGAP3)	NP_001278657.1:p.Glu26Lys
NM_001291730.1:c.76G>A (PGAP3)	NP_001278659.1:p.Glu26Lys
NM_001291732.1:c.76G>A (PGAP3)	NP_001278661.1:p.Glu26Lys
NM_001291733.1:c.76G>A (PGAP3)	NP_001278662.1:p.Glu26Lys
NM_033419.4:c.76G>A (PGAP3)	NP_219487.3:p.Glu26Lys
XM_011525480.1:c.76G>A (PGAP3)	XP_011523782.1:p.Glu26Lys
XM_011525481.1:c.-412G>A (PGAP3)	XP_011523783.1:n.-412G>A
XR_934601.1:n.119G>A (PGAP3)
XM_011525480.2:c.76G>A (PGAP3)	XP_011523782.1:p.Glu26Lys
XM_011525481.2:c.-412G>A (PGAP3)	XP_011523783.1:n.-412G>A
XR_002958086.1:n.119G>A (PGAP3)
NM_033419.5:c.76G>A (PGAP3) MANE Select	NP_219487.3:p.Glu26Lys
NM_001291726.2:c.76G>A (PGAP3)	NP_001278655.1:p.Glu26Lys
NM_001291728.2:c.76G>A (PGAP3)	NP_001278657.1:p.Glu26Lys
NM_001291730.2:c.76G>A (PGAP3)	NP_001278659.1:p.Glu26Lys
NM_001291732.2:c.76G>A (PGAP3)	NP_001278661.1:p.Glu26Lys
NM_001291733.2:c.76G>A (PGAP3)	NP_001278662.1:p.Glu26Lys