Canonical Allele Identifier: CA16607003

Gene: PALB2

Linked Data

• ClinVar Variation Id: 389287
• ClinVar RCV Id: RCV000435762 ; RCV001726173 ; RCV001015757 ; RCV001438952 ; RCV004539881
• dbSNP Id: rs1057523390
• gnomAD v2: 16-23647618-G-A
• gnomAD v4: 16-23636297-G-A
• MyVariant Identifiers: chr16:g.23647618G>A (hg19) ; chr16:g.23636297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636297G>A , CM000678.2:g.23636297G>A	GRCh38
NC_000016.9:g.23647618G>A , CM000678.1:g.23647618G>A	GRCh37
NC_000016.8:g.23555119G>A	NCBI36
NG_007406.1:g.10061C>T , LRG_308:g.10061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.255C>T	ENSP00000460666.3:p.His85=
ENST00000565038.2:c.211+1553C>T	ENSP00000459882.2:n.211+1553C>T
ENST00000566069.6:c.249C>T	ENSP00000459237.2:p.His83=
ENST00000697377.2:c.255C>T	ENSP00000513286.2:p.His85=
ENST00000697379.2:c.255C>T	ENSP00000513287.2:p.His85=
ENST00000561514.2:c.-637C>T	ENSP00000460666.2:n.-637C>T
ENST00000697374.1:c.-637C>T	ENSP00000513284.1:n.-637C>T
ENST00000697375.1:n.1596C>T
ENST00000697376.1:c.-637C>T	ENSP00000513285.1:n.-637C>T
ENST00000697377.1:c.-637C>T	ENSP00000513286.1:n.-637C>T
ENST00000697378.1:n.769C>T
ENST00000697379.1:c.-637C>T	ENSP00000513287.1:n.-637C>T
ENST00000697382.1:c.-637C>T	ENSP00000513288.1:n.-637C>T
ENST00000697383.1:c.48+4813C>T	ENSP00000513289.1:n.48+4813C>T
ENST00000697384.1:n.403C>T
ENST00000261584.9:c.249C>T MANE Select	ENSP00000261584.4:p.His83=
ENST00000261584.8:c.249C>T	ENSP00000261584.4:p.His83=
ENST00000561514.1:c.255C>T	ENSP00000460666.1:p.His85=
ENST00000565038.1:c.86+1553C>T
ENST00000567003.1:n.527C>T
ENST00000568219.5:c.-637C>T	ENSP00000454703.2:n.-637C>T
NM_024675.3:c.249C>T , LRG_308t1:c.249C>T	NP_078951.2:p.His83=
XM_011545946.1:c.255C>T	XP_011544248.1:p.His85=
XM_011545947.1:c.255C>T	XP_011544249.1:p.His85=
XM_011545948.1:c.-637C>T	XP_011544250.1:n.-637C>T
XR_950851.1:n.1045C>T
XM_011545946.2:c.255C>T	XP_011544248.1:p.His85=
XM_011545947.2:c.255C>T	XP_011544249.1:p.His85=
XM_011545948.2:c.-637C>T	XP_011544250.1:n.-637C>T
XM_017023671.1:c.255C>T	XP_016879160.1:p.His85=
XM_017023672.2:c.249C>T	XP_016879161.1:p.His83=
XM_017023673.2:c.249C>T	XP_016879162.1:p.His83=
NM_024675.4:c.249C>T MANE Select	NP_078951.2:p.His83=