Canonical Allele Identifier: CA10579947

Gene: PALB2

Linked Data

• ClinVar Variation Id: 231438
• ClinVar RCV Id: RCV000217386 ; RCV000691866 ; RCV001118196 ; RCV001818529
• dbSNP Id: rs876659160
• gnomAD v2: 16-23634437-G-A
• gnomAD v4: 16-23623116-G-A
• MyVariant Identifiers: chr16:g.23634437G>A (hg19) ; chr16:g.23623116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623116G>A , CM000678.2:g.23623116G>A	GRCh38
NC_000016.9:g.23634437G>A , CM000678.1:g.23634437G>A	GRCh37
NC_000016.8:g.23541938G>A	NCBI36
NG_007406.1:g.23242C>T , LRG_308:g.23242C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2855C>T	ENSP00000460666.3:p.Ser952Phe
ENST00000565038.2:c.*330C>T	ENSP00000459882.2:n.*330C>T
ENST00000566069.6:c.2849C>T	ENSP00000459237.2:p.Ser950Phe
ENST00000697377.2:c.2693C>T	ENSP00000513286.2:p.Ser898Phe
ENST00000697379.2:c.2855C>T	ENSP00000513287.2:p.Ser952Phe
ENST00000561514.2:c.1964C>T	ENSP00000460666.2:p.Ser655Phe
ENST00000697374.1:c.1964C>T	ENSP00000513284.1:p.Ser655Phe
ENST00000697375.1:n.4196C>T
ENST00000697376.1:c.1964C>T	ENSP00000513285.1:p.Ser655Phe
ENST00000697377.1:c.1802C>T	ENSP00000513286.1:p.Ser601Phe
ENST00000697378.1:n.3369C>T
ENST00000697379.1:c.1964C>T	ENSP00000513287.1:p.Ser655Phe
ENST00000697380.1:n.2141C>T
ENST00000697381.1:n.1544C>T
ENST00000697382.1:c.1964C>T	ENSP00000513288.1:p.Ser655Phe
ENST00000697383.1:c.383C>T	ENSP00000513289.1:p.Ser128Phe
ENST00000261584.9:c.2849C>T MANE Select	ENSP00000261584.4:p.Ser950Phe
ENST00000261584.8:c.2849C>T	ENSP00000261584.4:p.Ser950Phe
ENST00000568219.5:c.1964C>T	ENSP00000454703.2:p.Ser655Phe
NM_024675.3:c.2849C>T , LRG_308t1:c.2849C>T	NP_078951.2:p.Ser950Phe
XM_011545946.1:c.2855C>T	XP_011544248.1:p.Ser952Phe
XM_011545947.1:c.2855C>T	XP_011544249.1:p.Ser952Phe
XM_011545948.1:c.1964C>T	XP_011544250.1:p.Ser655Phe
XR_950851.1:n.3645C>T
XM_011545946.2:c.2855C>T	XP_011544248.1:p.Ser952Phe
XM_011545947.2:c.2855C>T	XP_011544249.1:p.Ser952Phe
XM_011545948.2:c.1964C>T	XP_011544250.1:p.Ser655Phe
XM_017023671.1:c.2855C>T	XP_016879160.1:p.Ser952Phe
XM_017023672.2:c.2849C>T	XP_016879161.1:p.Ser950Phe
XM_017023673.2:c.2849C>T	XP_016879162.1:p.Ser950Phe
NM_024675.4:c.2849C>T MANE Select	NP_078951.2:p.Ser950Phe