Canonical Allele Identifier: CA395138129

Gene: PALB2

Linked Data

• dbSNP Id: rs2142253737
• MyVariant Identifiers: chr16:g.23614899T>G (hg19) ; chr16:g.23603578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603578T>G , CM000678.2:g.23603578T>G	GRCh38
NC_000016.9:g.23614899T>G , CM000678.1:g.23614899T>G	GRCh37
NC_000016.8:g.23522400T>G	NCBI36
NG_007406.1:g.42780A>C , LRG_308:g.42780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3448A>C	ENSP00000460666.3:p.Thr1150Pro
ENST00000565038.2:c.*927A>C	ENSP00000459882.2:n.*927A>C
ENST00000566069.6:c.*77A>C	ENSP00000459237.2:n.*77A>C
ENST00000697377.2:c.3286A>C	ENSP00000513286.2:p.Thr1096Pro
ENST00000697379.2:c.3448A>C	ENSP00000513287.2:p.Thr1150Pro
ENST00000561514.2:c.2557A>C	ENSP00000460666.2:p.Thr853Pro
ENST00000697374.1:c.2557A>C	ENSP00000513284.1:p.Thr853Pro
ENST00000697375.1:n.4789A>C
ENST00000697376.1:c.*77A>C	ENSP00000513285.1:n.*77A>C
ENST00000697377.1:c.2395A>C	ENSP00000513286.1:p.Thr799Pro
ENST00000697378.1:n.3962A>C
ENST00000697379.1:c.2557A>C	ENSP00000513287.1:p.Thr853Pro
ENST00000697380.1:n.2646A>C
ENST00000697381.1:n.2137A>C
ENST00000697382.1:c.*219A>C	ENSP00000513288.1:n.*219A>C
ENST00000697383.1:c.976A>C	ENSP00000513289.1:p.Thr326Pro
ENST00000261584.9:c.3442A>C MANE Select	ENSP00000261584.4:p.Thr1148Pro
ENST00000261584.8:c.3442A>C	ENSP00000261584.4:p.Thr1148Pro
ENST00000566069.5:c.208A>C
ENST00000568219.5:c.2557A>C	ENSP00000454703.2:p.Thr853Pro
NM_024675.3:c.3442A>C , LRG_308t1:c.3442A>C	NP_078951.2:p.Thr1148Pro
XM_011545946.1:c.3448A>C	XP_011544248.1:p.Thr1150Pro
XM_011545947.1:c.*77A>C	XP_011544249.1:n.*77A>C
XM_011545948.1:c.2557A>C	XP_011544250.1:p.Thr853Pro
XR_950851.1:n.4150A>C
XM_011545946.2:c.3448A>C	XP_011544248.1:p.Thr1150Pro
XM_011545947.2:c.*77A>C	XP_011544249.1:n.*77A>C
XM_011545948.2:c.2557A>C	XP_011544250.1:p.Thr853Pro
XM_017023671.1:c.3211A>C	XP_016879160.1:p.Thr1071Pro
XM_017023672.2:c.3205A>C	XP_016879161.1:p.Thr1069Pro
XM_017023673.2:c.*77A>C	XP_016879162.1:n.*77A>C
NM_024675.4:c.3442A>C MANE Select	NP_078951.2:p.Thr1148Pro