Canonical Allele Identifier: CA395137852

Gene: PALB2

Linked Data

• ClinVar Variation Id: 3228034
• ClinVar RCV Id: RCV004517778
• dbSNP Id: rs1555457844
• MyVariant Identifiers: chr16:g.23614824C>G (hg19) ; chr16:g.23603503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603503C>G , CM000678.2:g.23603503C>G	GRCh38
NC_000016.9:g.23614824C>G , CM000678.1:g.23614824C>G	GRCh37
NC_000016.8:g.23522325C>G	NCBI36
NG_007406.1:g.42855G>C , LRG_308:g.42855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3523G>C	ENSP00000460666.3:p.Ala1175Pro
ENST00000565038.2:c.*1002G>C	ENSP00000459882.2:n.*1002G>C
ENST00000566069.6:c.*152G>C	ENSP00000459237.2:n.*152G>C
ENST00000697377.2:c.3361G>C	ENSP00000513286.2:p.Ala1121Pro
ENST00000697379.2:c.3523G>C	ENSP00000513287.2:p.Ala1175Pro
ENST00000561514.2:c.2632G>C	ENSP00000460666.2:p.Ala878Pro
ENST00000697374.1:c.2632G>C	ENSP00000513284.1:p.Ala878Pro
ENST00000697375.1:n.4864G>C
ENST00000697376.1:c.*152G>C	ENSP00000513285.1:n.*152G>C
ENST00000697377.1:c.2470G>C	ENSP00000513286.1:p.Ala824Pro
ENST00000697378.1:n.4037G>C
ENST00000697379.1:c.2632G>C	ENSP00000513287.1:p.Ala878Pro
ENST00000697380.1:n.2721G>C
ENST00000697381.1:n.2212G>C
ENST00000697382.1:c.*294G>C	ENSP00000513288.1:n.*294G>C
ENST00000697383.1:c.1051G>C	ENSP00000513289.1:p.Ala351Pro
ENST00000261584.9:c.3517G>C MANE Select	ENSP00000261584.4:p.Ala1173Pro
ENST00000261584.8:c.3517G>C	ENSP00000261584.4:p.Ala1173Pro
ENST00000566069.5:c.283G>C
ENST00000568219.5:c.2632G>C	ENSP00000454703.2:p.Ala878Pro
NM_024675.3:c.3517G>C , LRG_308t1:c.3517G>C	NP_078951.2:p.Ala1173Pro
XM_011545946.1:c.3523G>C	XP_011544248.1:p.Ala1175Pro
XM_011545947.1:c.*152G>C	XP_011544249.1:n.*152G>C
XM_011545948.1:c.2632G>C	XP_011544250.1:p.Ala878Pro
XR_950851.1:n.4225G>C
XM_011545946.2:c.3523G>C	XP_011544248.1:p.Ala1175Pro
XM_011545947.2:c.*152G>C	XP_011544249.1:n.*152G>C
XM_011545948.2:c.2632G>C	XP_011544250.1:p.Ala878Pro
XM_017023671.1:c.3286G>C	XP_016879160.1:p.Ala1096Pro
XM_017023672.2:c.3280G>C	XP_016879161.1:p.Ala1094Pro
XM_017023673.2:c.*152G>C	XP_016879162.1:n.*152G>C
NM_024675.4:c.3517G>C MANE Select	NP_078951.2:p.Ala1173Pro