Canonical Allele Identifier: CA395127579

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1059984
• ClinVar RCV Id: RCV001369353
• dbSNP Id: rs2142386489
• COSMIC: COSM5609734
• MyVariant Identifiers: chr16:g.23641575G>A (hg19) ; chr16:g.23630254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630254G>A , CM000678.2:g.23630254G>A	GRCh38
NC_000016.9:g.23641575G>A , CM000678.1:g.23641575G>A	GRCh37
NC_000016.8:g.23549076G>A	NCBI36
NG_007406.1:g.16104C>T , LRG_308:g.16104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1906C>T	ENSP00000460666.3:p.Pro636Ser
ENST00000565038.2:c.212-979C>T	ENSP00000459882.2:n.212-979C>T
ENST00000566069.6:c.1900C>T	ENSP00000459237.2:p.Pro634Ser
ENST00000697377.2:c.1906C>T	ENSP00000513286.2:p.Pro636Ser
ENST00000697379.2:c.1906C>T	ENSP00000513287.2:p.Pro636Ser
ENST00000561514.2:c.1015C>T	ENSP00000460666.2:p.Pro339Ser
ENST00000697374.1:c.1015C>T	ENSP00000513284.1:p.Pro339Ser
ENST00000697375.1:n.3247C>T
ENST00000697376.1:c.1015C>T	ENSP00000513285.1:p.Pro339Ser
ENST00000697377.1:c.1015C>T	ENSP00000513286.1:p.Pro339Ser
ENST00000697378.1:n.2420C>T
ENST00000697379.1:c.1015C>T	ENSP00000513287.1:p.Pro339Ser
ENST00000697380.1:n.828C>T
ENST00000697381.1:n.595C>T
ENST00000697382.1:c.1015C>T	ENSP00000513288.1:p.Pro339Ser
ENST00000697383.1:c.49-979C>T	ENSP00000513289.1:n.49-979C>T
ENST00000697384.1:n.2054C>T
ENST00000261584.9:c.1900C>T MANE Select	ENSP00000261584.4:p.Pro634Ser
ENST00000261584.8:c.1900C>T	ENSP00000261584.4:p.Pro634Ser
ENST00000565038.1:c.87-979C>T
ENST00000568219.5:c.1015C>T	ENSP00000454703.2:p.Pro339Ser
NM_024675.3:c.1900C>T , LRG_308t1:c.1900C>T	NP_078951.2:p.Pro634Ser
XM_011545946.1:c.1906C>T	XP_011544248.1:p.Pro636Ser
XM_011545947.1:c.1906C>T	XP_011544249.1:p.Pro636Ser
XM_011545948.1:c.1015C>T	XP_011544250.1:p.Pro339Ser
XR_950851.1:n.2696C>T
XM_011545946.2:c.1906C>T	XP_011544248.1:p.Pro636Ser
XM_011545947.2:c.1906C>T	XP_011544249.1:p.Pro636Ser
XM_011545948.2:c.1015C>T	XP_011544250.1:p.Pro339Ser
XM_017023671.1:c.1906C>T	XP_016879160.1:p.Pro636Ser
XM_017023672.2:c.1900C>T	XP_016879161.1:p.Pro634Ser
XM_017023673.2:c.1900C>T	XP_016879162.1:p.Pro634Ser
NM_024675.4:c.1900C>T MANE Select	NP_078951.2:p.Pro634Ser