Canonical Allele Identifier: CA395136523

Gene: PALB2

Linked Data

• ClinVar Variation Id: 838226
• ClinVar RCV Id: RCV001039734
• dbSNP Id: rs1967031858
• MyVariant Identifiers: chr16:g.23647220A>G (hg19) ; chr16:g.23635899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635899A>G , CM000678.2:g.23635899A>G	GRCh38
NC_000016.9:g.23647220A>G , CM000678.1:g.23647220A>G	GRCh37
NC_000016.8:g.23554721A>G	NCBI36
NG_007406.1:g.10459T>C , LRG_308:g.10459T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.653T>C	ENSP00000460666.3:p.Ile218Thr
ENST00000565038.2:c.211+1951T>C	ENSP00000459882.2:n.211+1951T>C
ENST00000566069.6:c.647T>C	ENSP00000459237.2:p.Ile216Thr
ENST00000697377.2:c.653T>C	ENSP00000513286.2:p.Ile218Thr
ENST00000697379.2:c.653T>C	ENSP00000513287.2:p.Ile218Thr
ENST00000561514.2:c.-239T>C	ENSP00000460666.2:n.-239T>C
ENST00000697374.1:c.-239T>C	ENSP00000513284.1:n.-239T>C
ENST00000697375.1:n.1994T>C
ENST00000697376.1:c.-239T>C	ENSP00000513285.1:n.-239T>C
ENST00000697377.1:c.-239T>C	ENSP00000513286.1:n.-239T>C
ENST00000697378.1:n.1167T>C
ENST00000697379.1:c.-239T>C	ENSP00000513287.1:n.-239T>C
ENST00000697382.1:c.-239T>C	ENSP00000513288.1:n.-239T>C
ENST00000697383.1:c.48+5211T>C	ENSP00000513289.1:n.48+5211T>C
ENST00000697384.1:n.801T>C
ENST00000261584.9:c.647T>C MANE Select	ENSP00000261584.4:p.Ile216Thr
ENST00000261584.8:c.647T>C	ENSP00000261584.4:p.Ile216Thr
ENST00000565038.1:c.86+1951T>C
ENST00000568219.5:c.-239T>C	ENSP00000454703.2:n.-239T>C
NM_024675.3:c.647T>C , LRG_308t1:c.647T>C	NP_078951.2:p.Ile216Thr
XM_011545946.1:c.653T>C	XP_011544248.1:p.Ile218Thr
XM_011545947.1:c.653T>C	XP_011544249.1:p.Ile218Thr
XM_011545948.1:c.-239T>C	XP_011544250.1:n.-239T>C
XR_950851.1:n.1443T>C
XM_011545946.2:c.653T>C	XP_011544248.1:p.Ile218Thr
XM_011545947.2:c.653T>C	XP_011544249.1:p.Ile218Thr
XM_011545948.2:c.-239T>C	XP_011544250.1:n.-239T>C
XM_017023671.1:c.653T>C	XP_016879160.1:p.Ile218Thr
XM_017023672.2:c.647T>C	XP_016879161.1:p.Ile216Thr
XM_017023673.2:c.647T>C	XP_016879162.1:p.Ile216Thr
NM_024675.4:c.647T>C MANE Select	NP_078951.2:p.Ile216Thr