Canonical Allele Identifier: CA395144022

Gene: PALB2

Linked Data

• dbSNP Id: rs2142335233
• gnomAD v4: 16-23623009-C-T
• MyVariant Identifiers: chr16:g.23634330C>T (hg19) ; chr16:g.23623009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623009C>T , CM000678.2:g.23623009C>T	GRCh38
NC_000016.9:g.23634330C>T , CM000678.1:g.23634330C>T	GRCh37
NC_000016.8:g.23541831C>T	NCBI36
NG_007406.1:g.23349G>A , LRG_308:g.23349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2962G>A	ENSP00000460666.3:p.Asp988Asn
ENST00000565038.2:c.*437G>A	ENSP00000459882.2:n.*437G>A
ENST00000566069.6:c.2956G>A	ENSP00000459237.2:p.Asp986Asn
ENST00000697377.2:c.2800G>A	ENSP00000513286.2:p.Asp934Asn
ENST00000697379.2:c.2962G>A	ENSP00000513287.2:p.Asp988Asn
ENST00000561514.2:c.2071G>A	ENSP00000460666.2:p.Asp691Asn
ENST00000697374.1:c.2071G>A	ENSP00000513284.1:p.Asp691Asn
ENST00000697375.1:n.4303G>A
ENST00000697376.1:c.2071G>A	ENSP00000513285.1:p.Asp691Asn
ENST00000697377.1:c.1909G>A	ENSP00000513286.1:p.Asp637Asn
ENST00000697378.1:n.3476G>A
ENST00000697379.1:c.2071G>A	ENSP00000513287.1:p.Asp691Asn
ENST00000697380.1:n.2248G>A
ENST00000697381.1:n.1651G>A
ENST00000697382.1:c.2071G>A	ENSP00000513288.1:p.Asp691Asn
ENST00000697383.1:c.490G>A	ENSP00000513289.1:p.Asp164Asn
ENST00000261584.9:c.2956G>A MANE Select	ENSP00000261584.4:p.Asp986Asn
ENST00000261584.8:c.2956G>A	ENSP00000261584.4:p.Asp986Asn
ENST00000568219.5:c.2071G>A	ENSP00000454703.2:p.Asp691Asn
NM_024675.3:c.2956G>A , LRG_308t1:c.2956G>A	NP_078951.2:p.Asp986Asn
XM_011545946.1:c.2962G>A	XP_011544248.1:p.Asp988Asn
XM_011545947.1:c.2962G>A	XP_011544249.1:p.Asp988Asn
XM_011545948.1:c.2071G>A	XP_011544250.1:p.Asp691Asn
XR_950851.1:n.3752G>A
XM_011545946.2:c.2962G>A	XP_011544248.1:p.Asp988Asn
XM_011545947.2:c.2962G>A	XP_011544249.1:p.Asp988Asn
XM_011545948.2:c.2071G>A	XP_011544250.1:p.Asp691Asn
XM_017023671.1:c.2962G>A	XP_016879160.1:p.Asp988Asn
XM_017023672.2:c.2956G>A	XP_016879161.1:p.Asp986Asn
XM_017023673.2:c.2956G>A	XP_016879162.1:p.Asp986Asn
NM_024675.4:c.2956G>A MANE Select	NP_078951.2:p.Asp986Asn