Canonical Allele Identifier: CA395138255

Gene: PALB2

Linked Data

• dbSNP Id: rs2142254680
• MyVariant Identifiers: chr16:g.23614944T>G (hg19) ; chr16:g.23603623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603623T>G , CM000678.2:g.23603623T>G	GRCh38
NC_000016.9:g.23614944T>G , CM000678.1:g.23614944T>G	GRCh37
NC_000016.8:g.23522445T>G	NCBI36
NG_007406.1:g.42735A>C , LRG_308:g.42735A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3403A>C	ENSP00000460666.3:p.Thr1135Pro
ENST00000565038.2:c.*882A>C	ENSP00000459882.2:n.*882A>C
ENST00000566069.6:c.*32A>C	ENSP00000459237.2:n.*32A>C
ENST00000697377.2:c.3241A>C	ENSP00000513286.2:p.Thr1081Pro
ENST00000697379.2:c.3403A>C	ENSP00000513287.2:p.Thr1135Pro
ENST00000561514.2:c.2512A>C	ENSP00000460666.2:p.Thr838Pro
ENST00000697374.1:c.2512A>C	ENSP00000513284.1:p.Thr838Pro
ENST00000697375.1:n.4744A>C
ENST00000697376.1:c.*32A>C	ENSP00000513285.1:n.*32A>C
ENST00000697377.1:c.2350A>C	ENSP00000513286.1:p.Thr784Pro
ENST00000697378.1:n.3917A>C
ENST00000697379.1:c.2512A>C	ENSP00000513287.1:p.Thr838Pro
ENST00000697380.1:n.2601A>C
ENST00000697381.1:n.2092A>C
ENST00000697382.1:c.*174A>C	ENSP00000513288.1:n.*174A>C
ENST00000697383.1:c.931A>C	ENSP00000513289.1:p.Thr311Pro
ENST00000261584.9:c.3397A>C MANE Select	ENSP00000261584.4:p.Thr1133Pro
ENST00000261584.8:c.3397A>C	ENSP00000261584.4:p.Thr1133Pro
ENST00000566069.5:c.163A>C
ENST00000568219.5:c.2512A>C	ENSP00000454703.2:p.Thr838Pro
NM_024675.3:c.3397A>C , LRG_308t1:c.3397A>C	NP_078951.2:p.Thr1133Pro
XM_011545946.1:c.3403A>C	XP_011544248.1:p.Thr1135Pro
XM_011545947.1:c.*32A>C	XP_011544249.1:n.*32A>C
XM_011545948.1:c.2512A>C	XP_011544250.1:p.Thr838Pro
XR_950851.1:n.4105A>C
XM_011545946.2:c.3403A>C	XP_011544248.1:p.Thr1135Pro
XM_011545947.2:c.*32A>C	XP_011544249.1:n.*32A>C
XM_011545948.2:c.2512A>C	XP_011544250.1:p.Thr838Pro
XM_017023671.1:c.3166A>C	XP_016879160.1:p.Thr1056Pro
XM_017023672.2:c.3160A>C	XP_016879161.1:p.Thr1054Pro
XM_017023673.2:c.*32A>C	XP_016879162.1:n.*32A>C
NM_024675.4:c.3397A>C MANE Select	NP_078951.2:p.Thr1133Pro