Canonical Allele Identifier: CA10580064

Gene: PALB2

Linked Data

• ClinVar Variation Id: 233707
• ClinVar RCV Id: RCV000221638
• dbSNP Id: rs876660586
• gnomAD v4: 16-23641136-G-C
• MyVariant Identifiers: chr16:g.23652457G>C (hg19) ; chr16:g.23641136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641136G>C , CM000678.2:g.23641136G>C	GRCh38
NC_000016.9:g.23652457G>C , CM000678.1:g.23652457G>C	GRCh37
NC_000016.8:g.23559958G>C	NCBI36
NG_007406.1:g.5222C>G , LRG_308:g.5222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-831C>G	ENSP00000460666.3:n.-831C>G
ENST00000565038.2:c.22C>G	ENSP00000459882.2:p.Pro8Ala
ENST00000566069.6:c.22C>G	ENSP00000459237.2:p.Pro8Ala
ENST00000697377.2:c.-218C>G	ENSP00000513286.2:n.-218C>G
ENST00000697379.2:c.-124C>G	ENSP00000513287.2:n.-124C>G
ENST00000561514.2:c.-1722C>G	ENSP00000460666.2:n.-1722C>G
ENST00000697374.1:c.-1313C>G	ENSP00000513284.1:n.-1313C>G
ENST00000697376.1:c.-1034C>G	ENSP00000513285.1:n.-1034C>G
ENST00000697377.1:c.-1109C>G	ENSP00000513286.1:n.-1109C>G
ENST00000697379.1:c.-1015C>G	ENSP00000513287.1:n.-1015C>G
ENST00000697382.1:c.-1773C>G	ENSP00000513288.1:n.-1773C>G
ENST00000697383.1:c.22C>G	ENSP00000513289.1:p.Pro8Ala
ENST00000697384.1:n.176C>G
ENST00000261584.9:c.22C>G MANE Select	ENSP00000261584.4:p.Pro8Ala
ENST00000261584.8:c.22C>G	ENSP00000261584.4:p.Pro8Ala
ENST00000567003.1:n.166C>G
ENST00000568219.5:c.-847C>G	ENSP00000454703.2:n.-847C>G
NM_024675.3:c.22C>G , LRG_308t1:c.22C>G	NP_078951.2:p.Pro8Ala
XM_011545948.1:c.-998C>G	XP_011544250.1:n.-998C>G
XM_011545946.2:c.-831C>G	XP_011544248.1:n.-831C>G
XM_011545947.2:c.-831C>G	XP_011544249.1:n.-831C>G
XM_011545948.2:c.-998C>G	XP_011544250.1:n.-998C>G
XM_017023671.1:c.-831C>G	XP_016879160.1:n.-831C>G
XM_017023672.2:c.22C>G	XP_016879161.1:p.Pro8Ala
XM_017023673.2:c.22C>G	XP_016879162.1:p.Pro8Ala
NM_024675.4:c.22C>G MANE Select	NP_078951.2:p.Pro8Ala