Canonical Allele Identifier: CA395138279

Gene: PALB2

Linked Data

• ClinVar Variation Id: 923808
• ClinVar RCV Id: RCV001184804 ; RCV001876154
• dbSNP Id: rs1966404823
• MyVariant Identifiers: chr16:g.23614956C>A (hg19) ; chr16:g.23603635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603635C>A , CM000678.2:g.23603635C>A	GRCh38
NC_000016.9:g.23614956C>A , CM000678.1:g.23614956C>A	GRCh37
NC_000016.8:g.23522457C>A	NCBI36
NG_007406.1:g.42723G>T , LRG_308:g.42723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3391G>T	ENSP00000460666.3:p.Ala1131Ser
ENST00000565038.2:c.*870G>T	ENSP00000459882.2:n.*870G>T
ENST00000566069.6:c.*20G>T	ENSP00000459237.2:n.*20G>T
ENST00000697377.2:c.3229G>T	ENSP00000513286.2:p.Ala1077Ser
ENST00000697379.2:c.3391G>T	ENSP00000513287.2:p.Ala1131Ser
ENST00000561514.2:c.2500G>T	ENSP00000460666.2:p.Ala834Ser
ENST00000697374.1:c.2500G>T	ENSP00000513284.1:p.Ala834Ser
ENST00000697375.1:n.4732G>T
ENST00000697376.1:c.*20G>T	ENSP00000513285.1:n.*20G>T
ENST00000697377.1:c.2338G>T	ENSP00000513286.1:p.Ala780Ser
ENST00000697378.1:n.3905G>T
ENST00000697379.1:c.2500G>T	ENSP00000513287.1:p.Ala834Ser
ENST00000697380.1:n.2589G>T
ENST00000697381.1:n.2080G>T
ENST00000697382.1:c.*162G>T	ENSP00000513288.1:n.*162G>T
ENST00000697383.1:c.919G>T	ENSP00000513289.1:p.Ala307Ser
ENST00000261584.9:c.3385G>T MANE Select	ENSP00000261584.4:p.Ala1129Ser
ENST00000261584.8:c.3385G>T	ENSP00000261584.4:p.Ala1129Ser
ENST00000566069.5:c.151G>T
ENST00000568219.5:c.2500G>T	ENSP00000454703.2:p.Ala834Ser
NM_024675.3:c.3385G>T , LRG_308t1:c.3385G>T	NP_078951.2:p.Ala1129Ser
XM_011545946.1:c.3391G>T	XP_011544248.1:p.Ala1131Ser
XM_011545947.1:c.*20G>T	XP_011544249.1:n.*20G>T
XM_011545948.1:c.2500G>T	XP_011544250.1:p.Ala834Ser
XR_950851.1:n.4093G>T
XM_011545946.2:c.3391G>T	XP_011544248.1:p.Ala1131Ser
XM_011545947.2:c.*20G>T	XP_011544249.1:n.*20G>T
XM_011545948.2:c.2500G>T	XP_011544250.1:p.Ala834Ser
XM_017023671.1:c.3154G>T	XP_016879160.1:p.Ala1052Ser
XM_017023672.2:c.3148G>T	XP_016879161.1:p.Ala1050Ser
XM_017023673.2:c.*20G>T	XP_016879162.1:n.*20G>T
NM_024675.4:c.3385G>T MANE Select	NP_078951.2:p.Ala1129Ser