Canonical Allele Identifier: CA10579941

Gene: PALB2

Linked Data

• ClinVar Variation Id: 231227
• ClinVar RCV Id: RCV000219424 ; RCV000504617 ; RCV000635907 ; RCV000657700
• dbSNP Id: rs876659036
• gnomAD v2: 16-23634318-C-A
• gnomAD v4: 16-23622997-C-A
• MyVariant Identifiers: chr16:g.23634318C>A (hg19) ; chr16:g.23622997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622997C>A , CM000678.2:g.23622997C>A	GRCh38
NC_000016.9:g.23634318C>A , CM000678.1:g.23634318C>A	GRCh37
NC_000016.8:g.23541819C>A	NCBI36
NG_007406.1:g.23361G>T , LRG_308:g.23361G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2974G>T	ENSP00000460666.3:p.Glu992Ter
ENST00000565038.2:c.*449G>T	ENSP00000459882.2:n.*449G>T
ENST00000566069.6:c.2968G>T	ENSP00000459237.2:p.Glu990Ter
ENST00000697377.2:c.2812G>T	ENSP00000513286.2:p.Glu938Ter
ENST00000697379.2:c.2974G>T	ENSP00000513287.2:p.Glu992Ter
ENST00000561514.2:c.2083G>T	ENSP00000460666.2:p.Glu695Ter
ENST00000697374.1:c.2083G>T	ENSP00000513284.1:p.Glu695Ter
ENST00000697375.1:n.4315G>T
ENST00000697376.1:c.2083G>T	ENSP00000513285.1:p.Glu695Ter
ENST00000697377.1:c.1921G>T	ENSP00000513286.1:p.Glu641Ter
ENST00000697378.1:n.3488G>T
ENST00000697379.1:c.2083G>T	ENSP00000513287.1:p.Glu695Ter
ENST00000697380.1:n.2260G>T
ENST00000697381.1:n.1663G>T
ENST00000697382.1:c.2083G>T	ENSP00000513288.1:p.Glu695Ter
ENST00000697383.1:c.502G>T	ENSP00000513289.1:p.Glu168Ter
ENST00000261584.9:c.2968G>T MANE Select	ENSP00000261584.4:p.Glu990Ter
ENST00000261584.8:c.2968G>T	ENSP00000261584.4:p.Glu990Ter
ENST00000568219.5:c.2083G>T	ENSP00000454703.2:p.Glu695Ter
NM_024675.3:c.2968G>T , LRG_308t1:c.2968G>T	NP_078951.2:p.Glu990Ter
XM_011545946.1:c.2974G>T	XP_011544248.1:p.Glu992Ter
XM_011545947.1:c.2974G>T	XP_011544249.1:p.Glu992Ter
XM_011545948.1:c.2083G>T	XP_011544250.1:p.Glu695Ter
XR_950851.1:n.3764G>T
XM_011545946.2:c.2974G>T	XP_011544248.1:p.Glu992Ter
XM_011545947.2:c.2974G>T	XP_011544249.1:p.Glu992Ter
XM_011545948.2:c.2083G>T	XP_011544250.1:p.Glu695Ter
XM_017023671.1:c.2974G>T	XP_016879160.1:p.Glu992Ter
XM_017023672.2:c.2968G>T	XP_016879161.1:p.Glu990Ter
XM_017023673.2:c.2968G>T	XP_016879162.1:p.Glu990Ter
NM_024675.4:c.2968G>T MANE Select	NP_078951.2:p.Glu990Ter