Canonical Allele Identifier: CA395143112

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1493385
• ClinVar RCV Id: RCV001984333
• dbSNP Id: rs1555459407
• MyVariant Identifiers: chr16:g.23632774G>A (hg19) ; chr16:g.23621453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621453G>A , CM000678.2:g.23621453G>A	GRCh38
NC_000016.9:g.23632774G>A , CM000678.1:g.23632774G>A	GRCh37
NC_000016.8:g.23540275G>A	NCBI36
NG_007406.1:g.24905C>T , LRG_308:g.24905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3028C>T	ENSP00000460666.3:p.Pro1010Ser
ENST00000565038.2:c.*503C>T	ENSP00000459882.2:n.*503C>T
ENST00000566069.6:c.3022C>T	ENSP00000459237.2:p.Pro1008Ser
ENST00000697377.2:c.2866C>T	ENSP00000513286.2:p.Pro956Ser
ENST00000697379.2:c.3028C>T	ENSP00000513287.2:p.Pro1010Ser
ENST00000561514.2:c.2137C>T	ENSP00000460666.2:p.Pro713Ser
ENST00000697374.1:c.2137C>T	ENSP00000513284.1:p.Pro713Ser
ENST00000697375.1:n.4369C>T
ENST00000697376.1:c.2137C>T	ENSP00000513285.1:p.Pro713Ser
ENST00000697377.1:c.1975C>T	ENSP00000513286.1:p.Pro659Ser
ENST00000697378.1:n.3542C>T
ENST00000697379.1:c.2137C>T	ENSP00000513287.1:p.Pro713Ser
ENST00000697380.1:n.2314C>T
ENST00000697381.1:n.1717C>T
ENST00000697382.1:c.2137C>T	ENSP00000513288.1:p.Pro713Ser
ENST00000697383.1:c.556C>T	ENSP00000513289.1:p.Pro186Ser
ENST00000261584.9:c.3022C>T MANE Select	ENSP00000261584.4:p.Pro1008Ser
ENST00000261584.8:c.3022C>T	ENSP00000261584.4:p.Pro1008Ser
ENST00000568219.5:c.2137C>T	ENSP00000454703.2:p.Pro713Ser
NM_024675.3:c.3022C>T , LRG_308t1:c.3022C>T	NP_078951.2:p.Pro1008Ser
XM_011545946.1:c.3028C>T	XP_011544248.1:p.Pro1010Ser
XM_011545947.1:c.3028C>T	XP_011544249.1:p.Pro1010Ser
XM_011545948.1:c.2137C>T	XP_011544250.1:p.Pro713Ser
XR_950851.1:n.3818C>T
XM_011545946.2:c.3028C>T	XP_011544248.1:p.Pro1010Ser
XM_011545947.2:c.3028C>T	XP_011544249.1:p.Pro1010Ser
XM_011545948.2:c.2137C>T	XP_011544250.1:p.Pro713Ser
XM_017023671.1:c.3028C>T	XP_016879160.1:p.Pro1010Ser
XM_017023672.2:c.3022C>T	XP_016879161.1:p.Pro1008Ser
XM_017023673.2:c.3022C>T	XP_016879162.1:p.Pro1008Ser
NM_024675.4:c.3022C>T MANE Select	NP_078951.2:p.Pro1008Ser