Canonical Allele Identifier: CA386376016

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189810-A-G
• MyVariant Identifiers: chr12:g.105583588A>G (hg19) ; chr12:g.105189810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189810A>G , CM000674.2:g.105189810A>G	GRCh38
NC_000012.11:g.105583588A>G , CM000674.1:g.105583588A>G	GRCh37
NC_000012.10:g.104107718A>G	NCBI36
NG_030419.1:g.51421T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1421T>C MANE Select	ENSP00000258530.3:p.Phe474Ser
ENST00000258530.7:c.1421T>C	ENSP00000258530.3:p.Phe474Ser
ENST00000539978.6:c.1292T>C	ENSP00000444472.2:p.Phe431Ser
ENST00000547439.5:c.*706T>C	ENSP00000449410.1:n.*706T>C
ENST00000547809.5:n.1431T>C
ENST00000551662.5:c.1439T>C	ENSP00000446917.1:p.Phe480Ser
ENST00000552945.1:n.261T>C
ENST00000553109.1:c.65T>C	ENSP00000446510.1:p.Phe22Ser
NM_001251904.1:c.1439T>C	NP_001238833.1:p.Phe480Ser
NM_001251905.1:c.1292T>C	NP_001238834.1:p.Phe431Ser
NM_018171.3:c.1421T>C	NP_060641.2:p.Phe474Ser
XM_006719472.1:c.1439T>C	XP_006719535.1:p.Phe480Ser
XM_011538530.1:c.1400T>C	XP_011536832.1:p.Phe467Ser
XM_011538531.1:c.1310T>C	XP_011536833.1:p.Phe437Ser
XM_011538532.1:c.1310T>C	XP_011536834.1:p.Phe437Ser
XM_011538530.3:c.1400T>C	XP_011536832.1:p.Phe467Ser
XM_011538531.3:c.1310T>C	XP_011536833.1:p.Phe437Ser
XM_011538532.3:c.1310T>C	XP_011536834.1:p.Phe437Ser
XM_017019551.2:c.1382T>C	XP_016875040.1:p.Phe461Ser
XM_017019552.2:c.1292T>C	XP_016875041.1:p.Phe431Ser
XM_017019553.2:c.1292T>C	XP_016875042.1:p.Phe431Ser
XM_017019554.1:c.1421T>C	XP_016875043.1:p.Phe474Ser
XR_001748795.1:n.1601T>C
XR_001748796.1:n.1583T>C
NM_018171.4:c.1421T>C	NP_060641.2:p.Phe474Ser
NM_018171.5:c.1421T>C MANE Select	NP_060641.2:p.Phe474Ser
NM_001251904.2:c.1439T>C	NP_001238833.1:p.Phe480Ser
NM_001251905.2:c.1292T>C	NP_001238834.1:p.Phe431Ser