Canonical Allele Identifier: CA386376054

Gene: APPL2

Linked Data

• dbSNP Id: rs1234030603
• gnomAD v2: 12-105583594-T-G
• gnomAD v4: 12-105189816-T-G
• MyVariant Identifiers: chr12:g.105583594T>G (hg19) ; chr12:g.105189816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189816T>G , CM000674.2:g.105189816T>G	GRCh38
NC_000012.11:g.105583594T>G , CM000674.1:g.105583594T>G	GRCh37
NC_000012.10:g.104107724T>G	NCBI36
NG_030419.1:g.51415A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1415A>C MANE Select	ENSP00000258530.3:p.Asn472Thr
ENST00000258530.7:c.1415A>C	ENSP00000258530.3:p.Asn472Thr
ENST00000539978.6:c.1286A>C	ENSP00000444472.2:p.Asn429Thr
ENST00000547439.5:c.*700A>C	ENSP00000449410.1:n.*700A>C
ENST00000547809.5:n.1425A>C
ENST00000551662.5:c.1433A>C	ENSP00000446917.1:p.Asn478Thr
ENST00000552945.1:n.255A>C
ENST00000553109.1:c.59A>C	ENSP00000446510.1:p.Asn20Thr
NM_001251904.1:c.1433A>C	NP_001238833.1:p.Asn478Thr
NM_001251905.1:c.1286A>C	NP_001238834.1:p.Asn429Thr
NM_018171.3:c.1415A>C	NP_060641.2:p.Asn472Thr
XM_006719472.1:c.1433A>C	XP_006719535.1:p.Asn478Thr
XM_011538530.1:c.1394A>C	XP_011536832.1:p.Asn465Thr
XM_011538531.1:c.1304A>C	XP_011536833.1:p.Asn435Thr
XM_011538532.1:c.1304A>C	XP_011536834.1:p.Asn435Thr
XM_011538530.3:c.1394A>C	XP_011536832.1:p.Asn465Thr
XM_011538531.3:c.1304A>C	XP_011536833.1:p.Asn435Thr
XM_011538532.3:c.1304A>C	XP_011536834.1:p.Asn435Thr
XM_017019551.2:c.1376A>C	XP_016875040.1:p.Asn459Thr
XM_017019552.2:c.1286A>C	XP_016875041.1:p.Asn429Thr
XM_017019553.2:c.1286A>C	XP_016875042.1:p.Asn429Thr
XM_017019554.1:c.1415A>C	XP_016875043.1:p.Asn472Thr
XR_001748795.1:n.1595A>C
XR_001748796.1:n.1577A>C
NM_018171.4:c.1415A>C	NP_060641.2:p.Asn472Thr
NM_018171.5:c.1415A>C MANE Select	NP_060641.2:p.Asn472Thr
NM_001251904.2:c.1433A>C	NP_001238833.1:p.Asn478Thr
NM_001251905.2:c.1286A>C	NP_001238834.1:p.Asn429Thr