Canonical Allele Identifier: CA386375946

Gene: APPL2

Linked Data

• dbSNP Id: rs1250299467
• gnomAD v2: 12-105583574-C-T
• gnomAD v4: 12-105189796-C-T
• MyVariant Identifiers: chr12:g.105583574C>T (hg19) ; chr12:g.105189796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189796C>T , CM000674.2:g.105189796C>T	GRCh38
NC_000012.11:g.105583574C>T , CM000674.1:g.105583574C>T	GRCh37
NC_000012.10:g.104107704C>T	NCBI36
NG_030419.1:g.51435G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1435G>A MANE Select	ENSP00000258530.3:p.Asp479Asn
ENST00000258530.7:c.1435G>A	ENSP00000258530.3:p.Asp479Asn
ENST00000539978.6:c.1306G>A	ENSP00000444472.2:p.Asp436Asn
ENST00000547439.5:c.*720G>A	ENSP00000449410.1:n.*720G>A
ENST00000547809.5:n.1445G>A
ENST00000551662.5:c.1453G>A	ENSP00000446917.1:p.Asp485Asn
ENST00000552945.1:n.275G>A
ENST00000553109.1:c.79G>A	ENSP00000446510.1:p.Asp27Asn
NM_001251904.1:c.1453G>A	NP_001238833.1:p.Asp485Asn
NM_001251905.1:c.1306G>A	NP_001238834.1:p.Asp436Asn
NM_018171.3:c.1435G>A	NP_060641.2:p.Asp479Asn
XM_006719472.1:c.1453G>A	XP_006719535.1:p.Asp485Asn
XM_011538530.1:c.1414G>A	XP_011536832.1:p.Asp472Asn
XM_011538531.1:c.1324G>A	XP_011536833.1:p.Asp442Asn
XM_011538532.1:c.1324G>A	XP_011536834.1:p.Asp442Asn
XM_011538530.3:c.1414G>A	XP_011536832.1:p.Asp472Asn
XM_011538531.3:c.1324G>A	XP_011536833.1:p.Asp442Asn
XM_011538532.3:c.1324G>A	XP_011536834.1:p.Asp442Asn
XM_017019551.2:c.1396G>A	XP_016875040.1:p.Asp466Asn
XM_017019552.2:c.1306G>A	XP_016875041.1:p.Asp436Asn
XM_017019553.2:c.1306G>A	XP_016875042.1:p.Asp436Asn
XM_017019554.1:c.1435G>A	XP_016875043.1:p.Asp479Asn
XR_001748795.1:n.1615G>A
XR_001748796.1:n.1597G>A
NM_018171.4:c.1435G>A	NP_060641.2:p.Asp479Asn
NM_018171.5:c.1435G>A MANE Select	NP_060641.2:p.Asp479Asn
NM_001251904.2:c.1453G>A	NP_001238833.1:p.Asp485Asn
NM_001251905.2:c.1306G>A	NP_001238834.1:p.Asp436Asn