Canonical Allele Identifier: CA10580054

Gene: PALB2

Linked Data

• ClinVar Variation Id: 230588
• ClinVar RCV Id: RCV000214682 ; RCV000474579
• dbSNP Id: rs876658653
• gnomAD v4: 16-23638107-A-G
• MyVariant Identifiers: chr16:g.23649428A>G (hg19) ; chr16:g.23638107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23638107A>G , CM000678.2:g.23638107A>G	GRCh38
NC_000016.9:g.23649428A>G , CM000678.1:g.23649428A>G	GRCh37
NC_000016.8:g.23556929A>G	NCBI36
NG_007406.1:g.8251T>C , LRG_308:g.8251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.77T>C	ENSP00000460666.3:p.Leu26Ser
ENST00000565038.2:c.71T>C	ENSP00000459882.2:p.Leu24Ser
ENST00000566069.6:c.71T>C	ENSP00000459237.2:p.Leu24Ser
ENST00000697377.2:c.77T>C	ENSP00000513286.2:p.Leu26Ser
ENST00000697379.2:c.77T>C	ENSP00000513287.2:p.Leu26Ser
ENST00000561514.2:c.-815T>C	ENSP00000460666.2:n.-815T>C
ENST00000697374.1:c.-815T>C	ENSP00000513284.1:n.-815T>C
ENST00000697375.1:n.1418T>C
ENST00000697376.1:c.-851T>C	ENSP00000513285.1:n.-851T>C
ENST00000697377.1:c.-815T>C	ENSP00000513286.1:n.-815T>C
ENST00000697378.1:n.591T>C
ENST00000697379.1:c.-815T>C	ENSP00000513287.1:n.-815T>C
ENST00000697382.1:c.-815T>C	ENSP00000513288.1:n.-815T>C
ENST00000697383.1:c.48+3003T>C	ENSP00000513289.1:n.48+3003T>C
ENST00000697384.1:n.225T>C
ENST00000261584.9:c.71T>C MANE Select	ENSP00000261584.4:p.Leu24Ser
ENST00000261584.8:c.71T>C	ENSP00000261584.4:p.Leu24Ser
ENST00000561514.1:c.77T>C	ENSP00000460666.1:p.Leu26Ser
ENST00000567003.1:n.349T>C
ENST00000568219.5:c.-815T>C	ENSP00000454703.2:n.-815T>C
NM_024675.3:c.71T>C , LRG_308t1:c.71T>C	NP_078951.2:p.Leu24Ser
XM_011545946.1:c.77T>C	XP_011544248.1:p.Leu26Ser
XM_011545947.1:c.77T>C	XP_011544249.1:p.Leu26Ser
XM_011545948.1:c.-815T>C	XP_011544250.1:n.-815T>C
XR_950851.1:n.867T>C
XM_011545946.2:c.77T>C	XP_011544248.1:p.Leu26Ser
XM_011545947.2:c.77T>C	XP_011544249.1:p.Leu26Ser
XM_011545948.2:c.-815T>C	XP_011544250.1:n.-815T>C
XM_017023671.1:c.77T>C	XP_016879160.1:p.Leu26Ser
XM_017023672.2:c.71T>C	XP_016879161.1:p.Leu24Ser
XM_017023673.2:c.71T>C	XP_016879162.1:p.Leu24Ser
NM_024675.4:c.71T>C MANE Select	NP_078951.2:p.Leu24Ser