Canonical Allele Identifier: CA395138423

Gene: PALB2

Linked Data

• dbSNP Id: rs2142255651
• gnomAD v4: 16-23603668-A-T
• MyVariant Identifiers: chr16:g.23614989A>T (hg19) ; chr16:g.23603668A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603668A>T , CM000678.2:g.23603668A>T	GRCh38
NC_000016.9:g.23614989A>T , CM000678.1:g.23614989A>T	GRCh37
NC_000016.8:g.23522490A>T	NCBI36
NG_007406.1:g.42690T>A , LRG_308:g.42690T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3358T>A	ENSP00000460666.3:p.Phe1120Ile
ENST00000565038.2:c.*837T>A	ENSP00000459882.2:n.*837T>A
ENST00000566069.6:c.3203T>A	ENSP00000459237.2:p.Val1068Asp
ENST00000697377.2:c.3196T>A	ENSP00000513286.2:p.Phe1066Ile
ENST00000697379.2:c.3358T>A	ENSP00000513287.2:p.Phe1120Ile
ENST00000561514.2:c.2467T>A	ENSP00000460666.2:p.Phe823Ile
ENST00000697374.1:c.2467T>A	ENSP00000513284.1:p.Phe823Ile
ENST00000697375.1:n.4699T>A
ENST00000697376.1:c.2318T>A	ENSP00000513285.1:p.Val773Asp
ENST00000697377.1:c.2305T>A	ENSP00000513286.1:p.Phe769Ile
ENST00000697378.1:n.3872T>A
ENST00000697379.1:c.2467T>A	ENSP00000513287.1:p.Phe823Ile
ENST00000697380.1:n.2556T>A
ENST00000697381.1:n.2047T>A
ENST00000697382.1:c.*129T>A	ENSP00000513288.1:n.*129T>A
ENST00000697383.1:c.886T>A	ENSP00000513289.1:p.Phe296Ile
ENST00000261584.9:c.3352T>A MANE Select	ENSP00000261584.4:p.Phe1118Ile
ENST00000261584.8:c.3352T>A	ENSP00000261584.4:p.Phe1118Ile
ENST00000566069.5:c.118T>A
ENST00000568219.5:c.2467T>A	ENSP00000454703.2:p.Phe823Ile
NM_024675.3:c.3352T>A , LRG_308t1:c.3352T>A	NP_078951.2:p.Phe1118Ile
XM_011545946.1:c.3358T>A	XP_011544248.1:p.Phe1120Ile
XM_011545947.1:c.3209T>A	XP_011544249.1:p.Val1070Asp
XM_011545948.1:c.2467T>A	XP_011544250.1:p.Phe823Ile
XR_950851.1:n.4060T>A
XM_011545946.2:c.3358T>A	XP_011544248.1:p.Phe1120Ile
XM_011545947.2:c.3209T>A	XP_011544249.1:p.Val1070Asp
XM_011545948.2:c.2467T>A	XP_011544250.1:p.Phe823Ile
XM_017023671.1:c.3121T>A	XP_016879160.1:p.Phe1041Ile
XM_017023672.2:c.3115T>A	XP_016879161.1:p.Phe1039Ile
XM_017023673.2:c.3203T>A	XP_016879162.1:p.Val1068Asp
NM_024675.4:c.3352T>A MANE Select	NP_078951.2:p.Phe1118Ile