Canonical Allele Identifier: CA395138015

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1731750
• ClinVar RCV Id: RCV002337507
• dbSNP Id: rs2142253005
• gnomAD v4: 16-23603548-G-A
• MyVariant Identifiers: chr16:g.23614869G>A (hg19) ; chr16:g.23603548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603548G>A , CM000678.2:g.23603548G>A	GRCh38
NC_000016.9:g.23614869G>A , CM000678.1:g.23614869G>A	GRCh37
NC_000016.8:g.23522370G>A	NCBI36
NG_007406.1:g.42810C>T , LRG_308:g.42810C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3478C>T	ENSP00000460666.3:p.His1160Tyr
ENST00000565038.2:c.*957C>T	ENSP00000459882.2:n.*957C>T
ENST00000566069.6:c.*107C>T	ENSP00000459237.2:n.*107C>T
ENST00000697377.2:c.3316C>T	ENSP00000513286.2:p.His1106Tyr
ENST00000697379.2:c.3478C>T	ENSP00000513287.2:p.His1160Tyr
ENST00000561514.2:c.2587C>T	ENSP00000460666.2:p.His863Tyr
ENST00000697374.1:c.2587C>T	ENSP00000513284.1:p.His863Tyr
ENST00000697375.1:n.4819C>T
ENST00000697376.1:c.*107C>T	ENSP00000513285.1:n.*107C>T
ENST00000697377.1:c.2425C>T	ENSP00000513286.1:p.His809Tyr
ENST00000697378.1:n.3992C>T
ENST00000697379.1:c.2587C>T	ENSP00000513287.1:p.His863Tyr
ENST00000697380.1:n.2676C>T
ENST00000697381.1:n.2167C>T
ENST00000697382.1:c.*249C>T	ENSP00000513288.1:n.*249C>T
ENST00000697383.1:c.1006C>T	ENSP00000513289.1:p.His336Tyr
ENST00000261584.9:c.3472C>T MANE Select	ENSP00000261584.4:p.His1158Tyr
ENST00000261584.8:c.3472C>T	ENSP00000261584.4:p.His1158Tyr
ENST00000566069.5:c.238C>T
ENST00000568219.5:c.2587C>T	ENSP00000454703.2:p.His863Tyr
NM_024675.3:c.3472C>T , LRG_308t1:c.3472C>T	NP_078951.2:p.His1158Tyr
XM_011545946.1:c.3478C>T	XP_011544248.1:p.His1160Tyr
XM_011545947.1:c.*107C>T	XP_011544249.1:n.*107C>T
XM_011545948.1:c.2587C>T	XP_011544250.1:p.His863Tyr
XR_950851.1:n.4180C>T
XM_011545946.2:c.3478C>T	XP_011544248.1:p.His1160Tyr
XM_011545947.2:c.*107C>T	XP_011544249.1:n.*107C>T
XM_011545948.2:c.2587C>T	XP_011544250.1:p.His863Tyr
XM_017023671.1:c.3241C>T	XP_016879160.1:p.His1081Tyr
XM_017023672.2:c.3235C>T	XP_016879161.1:p.His1079Tyr
XM_017023673.2:c.*107C>T	XP_016879162.1:n.*107C>T
NM_024675.4:c.3472C>T MANE Select	NP_078951.2:p.His1158Tyr