Canonical Allele Identifier: CA494173838

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1988520
• ClinVar RCV Id: RCV002781345 ; RCV003367882
• dbSNP Id: rs2142255608
• gnomAD v4: 16-23603666-G-A
• MyVariant Identifiers: chr16:g.23614987G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603666G>A , CM000678.2:g.23603666G>A	GRCh38
NC_000016.9:g.23614987G>A , CM000678.1:g.23614987G>A	GRCh37
NC_000016.8:g.23522488G>A	NCBI36
NG_007406.1:g.42692C>T , LRG_308:g.42692C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3360C>T	ENSP00000460666.3:p.Phe1120=
ENST00000565038.2:c.*839C>T	ENSP00000459882.2:n.*839C>T
ENST00000566069.6:c.3205C>T	ENSP00000459237.2:p.Pro1069Ser
ENST00000697377.2:c.3198C>T	ENSP00000513286.2:p.Phe1066=
ENST00000697379.2:c.3360C>T	ENSP00000513287.2:p.Phe1120=
ENST00000561514.2:c.2469C>T	ENSP00000460666.2:p.Phe823=
ENST00000697374.1:c.2469C>T	ENSP00000513284.1:p.Phe823=
ENST00000697375.1:n.4701C>T
ENST00000697376.1:c.2320C>T	ENSP00000513285.1:p.Pro774Ser
ENST00000697377.1:c.2307C>T	ENSP00000513286.1:p.Phe769=
ENST00000697378.1:n.3874C>T
ENST00000697379.1:c.2469C>T	ENSP00000513287.1:p.Phe823=
ENST00000697380.1:n.2558C>T
ENST00000697381.1:n.2049C>T
ENST00000697382.1:c.*131C>T	ENSP00000513288.1:n.*131C>T
ENST00000697383.1:c.888C>T	ENSP00000513289.1:p.Phe296=
ENST00000261584.9:c.3354C>T MANE Select	ENSP00000261584.4:p.Phe1118=
ENST00000261584.8:c.3354C>T	ENSP00000261584.4:p.Phe1118=
ENST00000566069.5:c.120C>T
ENST00000568219.5:c.2469C>T	ENSP00000454703.2:p.Phe823=
NM_024675.3:c.3354C>T , LRG_308t1:c.3354C>T	NP_078951.2:p.Phe1118=
XM_011545946.1:c.3360C>T	XP_011544248.1:p.Phe1120=
XM_011545947.1:c.3211C>T	XP_011544249.1:p.Pro1071Ser
XM_011545948.1:c.2469C>T	XP_011544250.1:p.Phe823=
XR_950851.1:n.4062C>T
XM_011545946.2:c.3360C>T	XP_011544248.1:p.Phe1120=
XM_011545947.2:c.3211C>T	XP_011544249.1:p.Pro1071Ser
XM_011545948.2:c.2469C>T	XP_011544250.1:p.Phe823=
XM_017023671.1:c.3123C>T	XP_016879160.1:p.Phe1041=
XM_017023672.2:c.3117C>T	XP_016879161.1:p.Phe1039=
XM_017023673.2:c.3205C>T	XP_016879162.1:p.Pro1069Ser
NM_024675.4:c.3354C>T MANE Select	NP_078951.2:p.Phe1118=