Canonical Allele Identifier: CA395137544

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1485274
• ClinVar RCV Id: RCV002008540
• dbSNP Id: rs2142445019
• MyVariant Identifiers: chr16:g.23647499T>A (hg19) ; chr16:g.23636178T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636178T>A , CM000678.2:g.23636178T>A	GRCh38
NC_000016.9:g.23647499T>A , CM000678.1:g.23647499T>A	GRCh37
NC_000016.8:g.23555000T>A	NCBI36
NG_007406.1:g.10180A>T , LRG_308:g.10180A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.374A>T	ENSP00000460666.3:p.Asp125Val
ENST00000565038.2:c.211+1672A>T	ENSP00000459882.2:n.211+1672A>T
ENST00000566069.6:c.368A>T	ENSP00000459237.2:p.Asp123Val
ENST00000697377.2:c.374A>T	ENSP00000513286.2:p.Asp125Val
ENST00000697379.2:c.374A>T	ENSP00000513287.2:p.Asp125Val
ENST00000561514.2:c.-518A>T	ENSP00000460666.2:n.-518A>T
ENST00000697374.1:c.-518A>T	ENSP00000513284.1:n.-518A>T
ENST00000697375.1:n.1715A>T
ENST00000697376.1:c.-518A>T	ENSP00000513285.1:n.-518A>T
ENST00000697377.1:c.-518A>T	ENSP00000513286.1:n.-518A>T
ENST00000697378.1:n.888A>T
ENST00000697379.1:c.-518A>T	ENSP00000513287.1:n.-518A>T
ENST00000697382.1:c.-518A>T	ENSP00000513288.1:n.-518A>T
ENST00000697383.1:c.48+4932A>T	ENSP00000513289.1:n.48+4932A>T
ENST00000697384.1:n.522A>T
ENST00000261584.9:c.368A>T MANE Select	ENSP00000261584.4:p.Asp123Val
ENST00000261584.8:c.368A>T	ENSP00000261584.4:p.Asp123Val
ENST00000565038.1:c.86+1672A>T
ENST00000567003.1:n.646A>T
ENST00000568219.5:c.-518A>T	ENSP00000454703.2:n.-518A>T
NM_024675.3:c.368A>T , LRG_308t1:c.368A>T	NP_078951.2:p.Asp123Val
XM_011545946.1:c.374A>T	XP_011544248.1:p.Asp125Val
XM_011545947.1:c.374A>T	XP_011544249.1:p.Asp125Val
XM_011545948.1:c.-518A>T	XP_011544250.1:n.-518A>T
XR_950851.1:n.1164A>T
XM_011545946.2:c.374A>T	XP_011544248.1:p.Asp125Val
XM_011545947.2:c.374A>T	XP_011544249.1:p.Asp125Val
XM_011545948.2:c.-518A>T	XP_011544250.1:n.-518A>T
XM_017023671.1:c.374A>T	XP_016879160.1:p.Asp125Val
XM_017023672.2:c.368A>T	XP_016879161.1:p.Asp123Val
XM_017023673.2:c.368A>T	XP_016879162.1:p.Asp123Val
NM_024675.4:c.368A>T MANE Select	NP_078951.2:p.Asp123Val