Canonical Allele Identifier: CA395134639

Gene: PALB2

Linked Data

• ClinVar Variation Id: 951770
• ClinVar RCV Id: RCV001223755 ; RCV002272420
• dbSNP Id: rs1567221840
• gnomAD v4: 16-23635548-G-T
• MyVariant Identifiers: chr16:g.23646869G>T (hg19) ; chr16:g.23635548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635548G>T , CM000678.2:g.23635548G>T	GRCh38
NC_000016.9:g.23646869G>T , CM000678.1:g.23646869G>T	GRCh37
NC_000016.8:g.23554370G>T	NCBI36
NG_007406.1:g.10810C>A , LRG_308:g.10810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1004C>A	ENSP00000460666.3:p.Thr335Asn
ENST00000565038.2:c.211+2302C>A	ENSP00000459882.2:n.211+2302C>A
ENST00000566069.6:c.998C>A	ENSP00000459237.2:p.Thr333Asn
ENST00000697377.2:c.1004C>A	ENSP00000513286.2:p.Thr335Asn
ENST00000697379.2:c.1004C>A	ENSP00000513287.2:p.Thr335Asn
ENST00000561514.2:c.113C>A	ENSP00000460666.2:p.Thr38Asn
ENST00000697374.1:c.113C>A	ENSP00000513284.1:p.Thr38Asn
ENST00000697375.1:n.2345C>A
ENST00000697376.1:c.113C>A	ENSP00000513285.1:p.Thr38Asn
ENST00000697377.1:c.113C>A	ENSP00000513286.1:p.Thr38Asn
ENST00000697378.1:n.1518C>A
ENST00000697379.1:c.113C>A	ENSP00000513287.1:p.Thr38Asn
ENST00000697382.1:c.113C>A	ENSP00000513288.1:p.Thr38Asn
ENST00000697383.1:c.48+5562C>A	ENSP00000513289.1:n.48+5562C>A
ENST00000697384.1:n.1152C>A
ENST00000261584.9:c.998C>A MANE Select	ENSP00000261584.4:p.Thr333Asn
ENST00000261584.8:c.998C>A	ENSP00000261584.4:p.Thr333Asn
ENST00000565038.1:c.86+2302C>A
ENST00000568219.5:c.113C>A	ENSP00000454703.2:p.Thr38Asn
NM_024675.3:c.998C>A , LRG_308t1:c.998C>A	NP_078951.2:p.Thr333Asn
XM_011545946.1:c.1004C>A	XP_011544248.1:p.Thr335Asn
XM_011545947.1:c.1004C>A	XP_011544249.1:p.Thr335Asn
XM_011545948.1:c.113C>A	XP_011544250.1:p.Thr38Asn
XR_950851.1:n.1794C>A
XM_011545946.2:c.1004C>A	XP_011544248.1:p.Thr335Asn
XM_011545947.2:c.1004C>A	XP_011544249.1:p.Thr335Asn
XM_011545948.2:c.113C>A	XP_011544250.1:p.Thr38Asn
XM_017023671.1:c.1004C>A	XP_016879160.1:p.Thr335Asn
XM_017023672.2:c.998C>A	XP_016879161.1:p.Thr333Asn
XM_017023673.2:c.998C>A	XP_016879162.1:p.Thr333Asn
NM_024675.4:c.998C>A MANE Select	NP_078951.2:p.Thr333Asn