Canonical Allele Identifier: CA395138046

Gene: PALB2

Linked Data

• dbSNP Id: rs2142253167
• MyVariant Identifiers: chr16:g.23614875C>T (hg19) ; chr16:g.23603554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603554C>T , CM000678.2:g.23603554C>T	GRCh38
NC_000016.9:g.23614875C>T , CM000678.1:g.23614875C>T	GRCh37
NC_000016.8:g.23522376C>T	NCBI36
NG_007406.1:g.42804G>A , LRG_308:g.42804G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3472G>A	ENSP00000460666.3:p.Asp1158Asn
ENST00000565038.2:c.*951G>A	ENSP00000459882.2:n.*951G>A
ENST00000566069.6:c.*101G>A	ENSP00000459237.2:n.*101G>A
ENST00000697377.2:c.3310G>A	ENSP00000513286.2:p.Asp1104Asn
ENST00000697379.2:c.3472G>A	ENSP00000513287.2:p.Asp1158Asn
ENST00000561514.2:c.2581G>A	ENSP00000460666.2:p.Asp861Asn
ENST00000697374.1:c.2581G>A	ENSP00000513284.1:p.Asp861Asn
ENST00000697375.1:n.4813G>A
ENST00000697376.1:c.*101G>A	ENSP00000513285.1:n.*101G>A
ENST00000697377.1:c.2419G>A	ENSP00000513286.1:p.Asp807Asn
ENST00000697378.1:n.3986G>A
ENST00000697379.1:c.2581G>A	ENSP00000513287.1:p.Asp861Asn
ENST00000697380.1:n.2670G>A
ENST00000697381.1:n.2161G>A
ENST00000697382.1:c.*243G>A	ENSP00000513288.1:n.*243G>A
ENST00000697383.1:c.1000G>A	ENSP00000513289.1:p.Asp334Asn
ENST00000261584.9:c.3466G>A MANE Select	ENSP00000261584.4:p.Asp1156Asn
ENST00000261584.8:c.3466G>A	ENSP00000261584.4:p.Asp1156Asn
ENST00000566069.5:c.232G>A
ENST00000568219.5:c.2581G>A	ENSP00000454703.2:p.Asp861Asn
NM_024675.3:c.3466G>A , LRG_308t1:c.3466G>A	NP_078951.2:p.Asp1156Asn
XM_011545946.1:c.3472G>A	XP_011544248.1:p.Asp1158Asn
XM_011545947.1:c.*101G>A	XP_011544249.1:n.*101G>A
XM_011545948.1:c.2581G>A	XP_011544250.1:p.Asp861Asn
XR_950851.1:n.4174G>A
XM_011545946.2:c.3472G>A	XP_011544248.1:p.Asp1158Asn
XM_011545947.2:c.*101G>A	XP_011544249.1:n.*101G>A
XM_011545948.2:c.2581G>A	XP_011544250.1:p.Asp861Asn
XM_017023671.1:c.3235G>A	XP_016879160.1:p.Asp1079Asn
XM_017023672.2:c.3229G>A	XP_016879161.1:p.Asp1077Asn
XM_017023673.2:c.*101G>A	XP_016879162.1:n.*101G>A
NM_024675.4:c.3466G>A MANE Select	NP_078951.2:p.Asp1156Asn