Canonical Allele Identifier: CA395144786

Gene: PALB2

Linked Data

• dbSNP Id: rs2142342728
• gnomAD v4: 16-23624013-T-A
• MyVariant Identifiers: chr16:g.23635334T>A (hg19) ; chr16:g.23624013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624013T>A , CM000678.2:g.23624013T>A	GRCh38
NC_000016.9:g.23635334T>A , CM000678.1:g.23635334T>A	GRCh37
NC_000016.8:g.23542835T>A	NCBI36
NG_007406.1:g.22345A>T , LRG_308:g.22345A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2836A>T	ENSP00000460666.3:p.Ile946Phe
ENST00000565038.2:c.*311A>T	ENSP00000459882.2:n.*311A>T
ENST00000566069.6:c.2830A>T	ENSP00000459237.2:p.Ile944Phe
ENST00000697377.2:c.2674A>T	ENSP00000513286.2:p.Ile892Phe
ENST00000697379.2:c.2836A>T	ENSP00000513287.2:p.Ile946Phe
ENST00000561514.2:c.1945A>T	ENSP00000460666.2:p.Ile649Phe
ENST00000697374.1:c.1945A>T	ENSP00000513284.1:p.Ile649Phe
ENST00000697375.1:n.4177A>T
ENST00000697376.1:c.1945A>T	ENSP00000513285.1:p.Ile649Phe
ENST00000697377.1:c.1783A>T	ENSP00000513286.1:p.Ile595Phe
ENST00000697378.1:n.3350A>T
ENST00000697379.1:c.1945A>T	ENSP00000513287.1:p.Ile649Phe
ENST00000697380.1:n.2122A>T
ENST00000697381.1:n.1525A>T
ENST00000697382.1:c.1945A>T	ENSP00000513288.1:p.Ile649Phe
ENST00000697383.1:c.364A>T	ENSP00000513289.1:p.Ile122Phe
ENST00000261584.9:c.2830A>T MANE Select	ENSP00000261584.4:p.Ile944Phe
ENST00000261584.8:c.2830A>T	ENSP00000261584.4:p.Ile944Phe
ENST00000568219.5:c.1945A>T	ENSP00000454703.2:p.Ile649Phe
NM_024675.3:c.2830A>T , LRG_308t1:c.2830A>T	NP_078951.2:p.Ile944Phe
XM_011545946.1:c.2836A>T	XP_011544248.1:p.Ile946Phe
XM_011545947.1:c.2836A>T	XP_011544249.1:p.Ile946Phe
XM_011545948.1:c.1945A>T	XP_011544250.1:p.Ile649Phe
XR_950851.1:n.3626A>T
XM_011545946.2:c.2836A>T	XP_011544248.1:p.Ile946Phe
XM_011545947.2:c.2836A>T	XP_011544249.1:p.Ile946Phe
XM_011545948.2:c.1945A>T	XP_011544250.1:p.Ile649Phe
XM_017023671.1:c.2836A>T	XP_016879160.1:p.Ile946Phe
XM_017023672.2:c.2830A>T	XP_016879161.1:p.Ile944Phe
XM_017023673.2:c.2830A>T	XP_016879162.1:p.Ile944Phe
NM_024675.4:c.2830A>T MANE Select	NP_078951.2:p.Ile944Phe