Canonical Allele Identifier: CA288485

Gene: PALB2

Linked Data

• ClinVar Variation Id: 128143
• ClinVar RCV Id: RCV000116107 ; RCV000212774 ; RCV000211074 ; RCV002222397
• dbSNP Id: rs370404126
• ExAC: 16:23647514 A / G
• gnomAD v2: 16-23647514-A-G
• gnomAD v3: 16-23636193-A-G
• gnomAD v4: 16-23636193-A-G
• MyVariant Identifiers: chr16:g.23647514A>G (hg19) ; chr16:g.23636193A>G (hg38)
• PubMed: PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636193A>G , CM000678.2:g.23636193A>G	GRCh38
NC_000016.9:g.23647514A>G , CM000678.1:g.23647514A>G	GRCh37
NC_000016.8:g.23555015A>G	NCBI36
NG_007406.1:g.10165T>C , LRG_308:g.10165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.359T>C	ENSP00000460666.3:p.Ile120Thr
ENST00000565038.2:c.211+1657T>C	ENSP00000459882.2:n.211+1657T>C
ENST00000566069.6:c.353T>C	ENSP00000459237.2:p.Ile118Thr
ENST00000697377.2:c.359T>C	ENSP00000513286.2:p.Ile120Thr
ENST00000697379.2:c.359T>C	ENSP00000513287.2:p.Ile120Thr
ENST00000561514.2:c.-533T>C	ENSP00000460666.2:n.-533T>C
ENST00000697374.1:c.-533T>C	ENSP00000513284.1:n.-533T>C
ENST00000697375.1:n.1700T>C
ENST00000697376.1:c.-533T>C	ENSP00000513285.1:n.-533T>C
ENST00000697377.1:c.-533T>C	ENSP00000513286.1:n.-533T>C
ENST00000697378.1:n.873T>C
ENST00000697379.1:c.-533T>C	ENSP00000513287.1:n.-533T>C
ENST00000697382.1:c.-533T>C	ENSP00000513288.1:n.-533T>C
ENST00000697383.1:c.48+4917T>C	ENSP00000513289.1:n.48+4917T>C
ENST00000697384.1:n.507T>C
ENST00000261584.9:c.353T>C MANE Select	ENSP00000261584.4:p.Ile118Thr
ENST00000261584.8:c.353T>C	ENSP00000261584.4:p.Ile118Thr
ENST00000565038.1:c.86+1657T>C
ENST00000567003.1:n.631T>C
ENST00000568219.5:c.-533T>C	ENSP00000454703.2:n.-533T>C
NM_024675.3:c.353T>C , LRG_308t1:c.353T>C	NP_078951.2:p.Ile118Thr
XM_011545946.1:c.359T>C	XP_011544248.1:p.Ile120Thr
XM_011545947.1:c.359T>C	XP_011544249.1:p.Ile120Thr
XM_011545948.1:c.-533T>C	XP_011544250.1:n.-533T>C
XR_950851.1:n.1149T>C
XM_011545946.2:c.359T>C	XP_011544248.1:p.Ile120Thr
XM_011545947.2:c.359T>C	XP_011544249.1:p.Ile120Thr
XM_011545948.2:c.-533T>C	XP_011544250.1:n.-533T>C
XM_017023671.1:c.359T>C	XP_016879160.1:p.Ile120Thr
XM_017023672.2:c.353T>C	XP_016879161.1:p.Ile118Thr
XM_017023673.2:c.353T>C	XP_016879162.1:p.Ile118Thr
NM_024675.4:c.353T>C MANE Select	NP_078951.2:p.Ile118Thr