Canonical Allele Identifier: CA395137929

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603528C>G , CM000678.2:g.23603528C>G	GRCh38
NC_000016.9:g.23614849C>G , CM000678.1:g.23614849C>G	GRCh37
NC_000016.8:g.23522350C>G	NCBI36
NG_007406.1:g.42830G>C , LRG_308:g.42830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3498G>C	ENSP00000460666.3:p.Trp1166Cys
ENST00000565038.2:c.*977G>C	ENSP00000459882.2:n.*977G>C
ENST00000566069.6:c.*127G>C	ENSP00000459237.2:n.*127G>C
ENST00000697377.2:c.3336G>C	ENSP00000513286.2:p.Trp1112Cys
ENST00000697379.2:c.3498G>C	ENSP00000513287.2:p.Trp1166Cys
ENST00000561514.2:c.2607G>C	ENSP00000460666.2:p.Trp869Cys
ENST00000697374.1:c.2607G>C	ENSP00000513284.1:p.Trp869Cys
ENST00000697375.1:n.4839G>C
ENST00000697376.1:c.*127G>C	ENSP00000513285.1:n.*127G>C
ENST00000697377.1:c.2445G>C	ENSP00000513286.1:p.Trp815Cys
ENST00000697378.1:n.4012G>C
ENST00000697379.1:c.2607G>C	ENSP00000513287.1:p.Trp869Cys
ENST00000697380.1:n.2696G>C
ENST00000697381.1:n.2187G>C
ENST00000697382.1:c.*269G>C	ENSP00000513288.1:n.*269G>C
ENST00000697383.1:c.1026G>C	ENSP00000513289.1:p.Trp342Cys
ENST00000261584.9:c.3492G>C MANE Select	ENSP00000261584.4:p.Trp1164Cys
ENST00000261584.8:c.3492G>C	ENSP00000261584.4:p.Trp1164Cys
ENST00000566069.5:c.258G>C
ENST00000568219.5:c.2607G>C	ENSP00000454703.2:p.Trp869Cys
NM_024675.3:c.3492G>C , LRG_308t1:c.3492G>C	NP_078951.2:p.Trp1164Cys
XM_011545946.1:c.3498G>C	XP_011544248.1:p.Trp1166Cys
XM_011545947.1:c.*127G>C	XP_011544249.1:n.*127G>C
XM_011545948.1:c.2607G>C	XP_011544250.1:p.Trp869Cys
XR_950851.1:n.4200G>C
XM_011545946.2:c.3498G>C	XP_011544248.1:p.Trp1166Cys
XM_011545947.2:c.*127G>C	XP_011544249.1:n.*127G>C
XM_011545948.2:c.2607G>C	XP_011544250.1:p.Trp869Cys
XM_017023671.1:c.3261G>C	XP_016879160.1:p.Trp1087Cys
XM_017023672.2:c.3255G>C	XP_016879161.1:p.Trp1085Cys
XM_017023673.2:c.*127G>C	XP_016879162.1:n.*127G>C
NM_024675.4:c.3492G>C MANE Select	NP_078951.2:p.Trp1164Cys