Canonical Allele Identifier: CA494173488

Gene: PALB2

Linked Data

• dbSNP Id: rs1966394422
• MyVariant Identifiers: chr16:g.23614789G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603468G>A , CM000678.2:g.23603468G>A	GRCh38
NC_000016.9:g.23614789G>A , CM000678.1:g.23614789G>A	GRCh37
NC_000016.8:g.23522290G>A	NCBI36
NG_007406.1:g.42890C>T , LRG_308:g.42890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3558C>T	ENSP00000460666.3:p.His1186=
ENST00000565038.2:c.*1037C>T	ENSP00000459882.2:n.*1037C>T
ENST00000566069.6:c.*187C>T	ENSP00000459237.2:n.*187C>T
ENST00000697377.2:c.3396C>T	ENSP00000513286.2:p.His1132=
ENST00000697379.2:c.3558C>T	ENSP00000513287.2:p.His1186=
ENST00000561514.2:c.2667C>T	ENSP00000460666.2:p.His889=
ENST00000697374.1:c.2667C>T	ENSP00000513284.1:p.His889=
ENST00000697375.1:n.4899C>T
ENST00000697376.1:c.*187C>T	ENSP00000513285.1:n.*187C>T
ENST00000697377.1:c.2505C>T	ENSP00000513286.1:p.His835=
ENST00000697378.1:n.4072C>T
ENST00000697379.1:c.2667C>T	ENSP00000513287.1:p.His889=
ENST00000697380.1:n.2756C>T
ENST00000697381.1:n.2247C>T
ENST00000697382.1:c.*329C>T	ENSP00000513288.1:n.*329C>T
ENST00000697383.1:c.1086C>T	ENSP00000513289.1:p.His362=
ENST00000261584.9:c.3552C>T MANE Select	ENSP00000261584.4:p.His1184=
ENST00000261584.8:c.3552C>T	ENSP00000261584.4:p.His1184=
ENST00000566069.5:c.318C>T
ENST00000568219.5:c.2667C>T	ENSP00000454703.2:p.His889=
NM_024675.3:c.3552C>T , LRG_308t1:c.3552C>T	NP_078951.2:p.His1184=
XM_011545946.1:c.3558C>T	XP_011544248.1:p.His1186=
XM_011545947.1:c.*187C>T	XP_011544249.1:n.*187C>T
XM_011545948.1:c.2667C>T	XP_011544250.1:p.His889=
XR_950851.1:n.4260C>T
XM_011545946.2:c.3558C>T	XP_011544248.1:p.His1186=
XM_011545947.2:c.*187C>T	XP_011544249.1:n.*187C>T
XM_011545948.2:c.2667C>T	XP_011544250.1:p.His889=
XM_017023671.1:c.3321C>T	XP_016879160.1:p.His1107=
XM_017023672.2:c.3315C>T	XP_016879161.1:p.His1105=
XM_017023673.2:c.*187C>T	XP_016879162.1:n.*187C>T
NM_024675.4:c.3552C>T MANE Select	NP_078951.2:p.His1184=