Canonical Allele Identifier: CA494461110

Gene: PALB2

Linked Data

• ClinVar Variation Id: 703019
• ClinVar RCV Id: RCV001499662 ; RCV002427183 ; RCV003478554
• dbSNP Id: rs1278216949
• MyVariant Identifiers: chr16:g.23641273A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629952A>G , CM000678.2:g.23629952A>G	GRCh38
NC_000016.9:g.23641273A>G , CM000678.1:g.23641273A>G	GRCh37
NC_000016.8:g.23548774A>G	NCBI36
NG_007406.1:g.16406T>C , LRG_308:g.16406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2208T>C	ENSP00000460666.3:p.Thr736=
ENST00000565038.2:c.212-677T>C	ENSP00000459882.2:n.212-677T>C
ENST00000566069.6:c.2202T>C	ENSP00000459237.2:p.Thr734=
ENST00000697377.2:c.2208T>C	ENSP00000513286.2:p.Thr736=
ENST00000697379.2:c.2208T>C	ENSP00000513287.2:p.Thr736=
ENST00000561514.2:c.1317T>C	ENSP00000460666.2:p.Thr439=
ENST00000697374.1:c.1317T>C	ENSP00000513284.1:p.Thr439=
ENST00000697375.1:n.3549T>C
ENST00000697376.1:c.1317T>C	ENSP00000513285.1:p.Thr439=
ENST00000697377.1:c.1317T>C	ENSP00000513286.1:p.Thr439=
ENST00000697378.1:n.2722T>C
ENST00000697379.1:c.1317T>C	ENSP00000513287.1:p.Thr439=
ENST00000697380.1:n.1130T>C
ENST00000697381.1:n.897T>C
ENST00000697382.1:c.1317T>C	ENSP00000513288.1:p.Thr439=
ENST00000697383.1:c.49-677T>C	ENSP00000513289.1:n.49-677T>C
ENST00000697384.1:n.2356T>C
ENST00000261584.9:c.2202T>C MANE Select	ENSP00000261584.4:p.Thr734=
ENST00000261584.8:c.2202T>C	ENSP00000261584.4:p.Thr734=
ENST00000565038.1:c.87-677T>C
ENST00000568219.5:c.1317T>C	ENSP00000454703.2:p.Thr439=
NM_024675.3:c.2202T>C , LRG_308t1:c.2202T>C	NP_078951.2:p.Thr734=
XM_011545946.1:c.2208T>C	XP_011544248.1:p.Thr736=
XM_011545947.1:c.2208T>C	XP_011544249.1:p.Thr736=
XM_011545948.1:c.1317T>C	XP_011544250.1:p.Thr439=
XR_950851.1:n.2998T>C
XM_011545946.2:c.2208T>C	XP_011544248.1:p.Thr736=
XM_011545947.2:c.2208T>C	XP_011544249.1:p.Thr736=
XM_011545948.2:c.1317T>C	XP_011544250.1:p.Thr439=
XM_017023671.1:c.2208T>C	XP_016879160.1:p.Thr736=
XM_017023672.2:c.2202T>C	XP_016879161.1:p.Thr734=
XM_017023673.2:c.2202T>C	XP_016879162.1:p.Thr734=
NM_024675.4:c.2202T>C MANE Select	NP_078951.2:p.Thr734=