Canonical Allele Identifier: CA395137597

Gene: PALB2

Linked Data

• dbSNP Id: rs2142250701
• MyVariant Identifiers: chr16:g.23614785A>T (hg19) ; chr16:g.23603464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603464A>T , CM000678.2:g.23603464A>T	GRCh38
NC_000016.9:g.23614785A>T , CM000678.1:g.23614785A>T	GRCh37
NC_000016.8:g.23522286A>T	NCBI36
NG_007406.1:g.42894T>A , LRG_308:g.42894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3562T>A	ENSP00000460666.3:p.Ser1188Thr
ENST00000565038.2:c.*1041T>A	ENSP00000459882.2:n.*1041T>A
ENST00000566069.6:c.*191T>A	ENSP00000459237.2:n.*191T>A
ENST00000697377.2:c.3400T>A	ENSP00000513286.2:p.Ser1134Thr
ENST00000697379.2:c.3562T>A	ENSP00000513287.2:p.Ser1188Thr
ENST00000561514.2:c.2671T>A	ENSP00000460666.2:p.Ser891Thr
ENST00000697374.1:c.2671T>A	ENSP00000513284.1:p.Ser891Thr
ENST00000697375.1:n.4903T>A
ENST00000697376.1:c.*191T>A	ENSP00000513285.1:n.*191T>A
ENST00000697377.1:c.2509T>A	ENSP00000513286.1:p.Ser837Thr
ENST00000697378.1:n.4076T>A
ENST00000697379.1:c.2671T>A	ENSP00000513287.1:p.Ser891Thr
ENST00000697380.1:n.2760T>A
ENST00000697381.1:n.2251T>A
ENST00000697382.1:c.*333T>A	ENSP00000513288.1:n.*333T>A
ENST00000697383.1:c.1090T>A	ENSP00000513289.1:p.Ser364Thr
ENST00000261584.9:c.3556T>A MANE Select	ENSP00000261584.4:p.Ser1186Thr
ENST00000261584.8:c.3556T>A	ENSP00000261584.4:p.Ser1186Thr
ENST00000566069.5:c.322T>A
ENST00000568219.5:c.2671T>A	ENSP00000454703.2:p.Ser891Thr
NM_024675.3:c.3556T>A , LRG_308t1:c.3556T>A	NP_078951.2:p.Ser1186Thr
XM_011545946.1:c.3562T>A	XP_011544248.1:p.Ser1188Thr
XM_011545947.1:c.*191T>A	XP_011544249.1:n.*191T>A
XM_011545948.1:c.2671T>A	XP_011544250.1:p.Ser891Thr
XR_950851.1:n.4264T>A
XM_011545946.2:c.3562T>A	XP_011544248.1:p.Ser1188Thr
XM_011545947.2:c.*191T>A	XP_011544249.1:n.*191T>A
XM_011545948.2:c.2671T>A	XP_011544250.1:p.Ser891Thr
XM_017023671.1:c.3325T>A	XP_016879160.1:p.Ser1109Thr
XM_017023672.2:c.3319T>A	XP_016879161.1:p.Ser1107Thr
XM_017023673.2:c.*191T>A	XP_016879162.1:n.*191T>A
NM_024675.4:c.3556T>A MANE Select	NP_078951.2:p.Ser1186Thr