Canonical Allele Identifier: CA494168470

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2431652
• ClinVar RCV Id: RCV003142288
• dbSNP Id: rs749298208
• MyVariant Identifiers: chr16:g.23652452G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641131G>A , CM000678.2:g.23641131G>A	GRCh38
NC_000016.9:g.23652452G>A , CM000678.1:g.23652452G>A	GRCh37
NC_000016.8:g.23559953G>A	NCBI36
NG_007406.1:g.5227C>T , LRG_308:g.5227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-826C>T	ENSP00000460666.3:n.-826C>T
ENST00000565038.2:c.27C>T	ENSP00000459882.2:p.Leu9=
ENST00000566069.6:c.27C>T	ENSP00000459237.2:p.Leu9=
ENST00000697377.2:c.-213C>T	ENSP00000513286.2:n.-213C>T
ENST00000697379.2:c.-119C>T	ENSP00000513287.2:n.-119C>T
ENST00000561514.2:c.-1717C>T	ENSP00000460666.2:n.-1717C>T
ENST00000697374.1:c.-1308C>T	ENSP00000513284.1:n.-1308C>T
ENST00000697376.1:c.-1029C>T	ENSP00000513285.1:n.-1029C>T
ENST00000697377.1:c.-1104C>T	ENSP00000513286.1:n.-1104C>T
ENST00000697379.1:c.-1010C>T	ENSP00000513287.1:n.-1010C>T
ENST00000697382.1:c.-1768C>T	ENSP00000513288.1:n.-1768C>T
ENST00000697383.1:c.27C>T	ENSP00000513289.1:p.Leu9=
ENST00000697384.1:n.181C>T
ENST00000261584.9:c.27C>T MANE Select	ENSP00000261584.4:p.Leu9=
ENST00000261584.8:c.27C>T	ENSP00000261584.4:p.Leu9=
ENST00000567003.1:n.171C>T
ENST00000568219.5:c.-842C>T	ENSP00000454703.2:n.-842C>T
NM_024675.3:c.27C>T , LRG_308t1:c.27C>T	NP_078951.2:p.Leu9=
XM_011545948.1:c.-993C>T	XP_011544250.1:n.-993C>T
XM_011545946.2:c.-826C>T	XP_011544248.1:n.-826C>T
XM_011545947.2:c.-826C>T	XP_011544249.1:n.-826C>T
XM_011545948.2:c.-993C>T	XP_011544250.1:n.-993C>T
XM_017023671.1:c.-826C>T	XP_016879160.1:n.-826C>T
XM_017023672.2:c.27C>T	XP_016879161.1:p.Leu9=
XM_017023673.2:c.27C>T	XP_016879162.1:p.Leu9=
NM_024675.4:c.27C>T MANE Select	NP_078951.2:p.Leu9=