Canonical Allele Identifier: CA2575273427

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189910-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189910A>G , CM000674.2:g.105189910A>G	GRCh38
NC_000012.11:g.105583688A>G , CM000674.1:g.105583688A>G	GRCh37
NC_000012.10:g.104107818A>G	NCBI36
NG_030419.1:g.51321T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1406+81T>C MANE Select	ENSP00000258530.3:n.1406+81T>C
ENST00000258530.7:c.1406+81T>C	ENSP00000258530.3:n.1406+81T>C
ENST00000539978.6:c.1277+81T>C	ENSP00000444472.2:n.1277+81T>C
ENST00000547439.5:c.*691+81T>C	ENSP00000449410.1:n.*691+81T>C
ENST00000547809.5:n.1416+81T>C
ENST00000551662.5:c.1424+81T>C	ENSP00000446917.1:n.1424+81T>C
ENST00000552945.1:n.182-21T>C
ENST00000553109.1:c.50+81T>C	ENSP00000446510.1:n.50+81T>C
NM_001251904.1:c.1424+81T>C	NP_001238833.1:n.1424+81T>C
NM_001251905.1:c.1277+81T>C	NP_001238834.1:n.1277+81T>C
NM_018171.3:c.1406+81T>C	NP_060641.2:n.1406+81T>C
XM_006719472.1:c.1424+81T>C	XP_006719535.1:n.1424+81T>C
XM_011538530.1:c.1385+81T>C	XP_011536832.1:n.1385+81T>C
XM_011538531.1:c.1295+81T>C	XP_011536833.1:n.1295+81T>C
XM_011538532.1:c.1295+81T>C	XP_011536834.1:n.1295+81T>C
XM_011538530.3:c.1385+81T>C	XP_011536832.1:n.1385+81T>C
XM_011538531.3:c.1295+81T>C	XP_011536833.1:n.1295+81T>C
XM_011538532.3:c.1295+81T>C	XP_011536834.1:n.1295+81T>C
XM_017019551.2:c.1367+81T>C	XP_016875040.1:n.1367+81T>C
XM_017019552.2:c.1277+81T>C	XP_016875041.1:n.1277+81T>C
XM_017019553.2:c.1277+81T>C	XP_016875042.1:n.1277+81T>C
XM_017019554.1:c.1406+81T>C	XP_016875043.1:n.1406+81T>C
XR_001748795.1:n.1586+81T>C
XR_001748796.1:n.1568+81T>C
NM_018171.4:c.1406+81T>C	NP_060641.2:n.1406+81T>C
NM_018171.5:c.1406+81T>C MANE Select	NP_060641.2:n.1406+81T>C
NM_001251904.2:c.1424+81T>C	NP_001238833.1:n.1424+81T>C
NM_001251905.2:c.1277+81T>C	NP_001238834.1:n.1277+81T>C