Canonical Allele Identifier: CA7963321

Gene: PALB2

Linked Data

• dbSNP Id: rs780522699
• ExAC: 16:23614755 A / G
• gnomAD v2: 16-23614755-A-G
• gnomAD v4: 16-23603434-A-G
• MyVariant Identifiers: chr16:g.23614755A>G (hg19) ; chr16:g.23603434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603434A>G , CM000678.2:g.23603434A>G	GRCh38
NC_000016.9:g.23614755A>G , CM000678.1:g.23614755A>G	GRCh37
NC_000016.8:g.23522256A>G	NCBI36
NG_007406.1:g.42924T>C , LRG_308:g.42924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.*25T>C	ENSP00000460666.3:n.*25T>C
ENST00000565038.2:c.*1071T>C	ENSP00000459882.2:n.*1071T>C
ENST00000566069.6:c.*221T>C	ENSP00000459237.2:n.*221T>C
ENST00000697377.2:c.*25T>C	ENSP00000513286.2:n.*25T>C
ENST00000697379.2:c.*25T>C	ENSP00000513287.2:n.*25T>C
ENST00000561514.2:c.*25T>C	ENSP00000460666.2:n.*25T>C
ENST00000697374.1:c.*25T>C	ENSP00000513284.1:n.*25T>C
ENST00000697375.1:n.4933T>C
ENST00000697376.1:c.*221T>C	ENSP00000513285.1:n.*221T>C
ENST00000697377.1:c.*25T>C	ENSP00000513286.1:n.*25T>C
ENST00000697378.1:n.4106T>C
ENST00000697379.1:c.*25T>C	ENSP00000513287.1:n.*25T>C
ENST00000697380.1:n.2790T>C
ENST00000697381.1:n.2281T>C
ENST00000697382.1:c.*363T>C	ENSP00000513288.1:n.*363T>C
ENST00000697383.1:c.*25T>C	ENSP00000513289.1:n.*25T>C
ENST00000261584.9:c.*25T>C MANE Select	ENSP00000261584.4:n.*25T>C
ENST00000261584.8:c.*25T>C	ENSP00000261584.4:n.*25T>C
ENST00000566069.5:c.352T>C
ENST00000568219.5:c.*25T>C	ENSP00000454703.2:n.*25T>C
NM_024675.3:c.*25T>C , LRG_308t1:c.*25T>C	NP_078951.2:n.*25T>C
XM_011545946.1:c.*25T>C	XP_011544248.1:n.*25T>C
XM_011545947.1:c.*221T>C	XP_011544249.1:n.*221T>C
XM_011545948.1:c.*25T>C	XP_011544250.1:n.*25T>C
XR_950851.1:n.4294T>C
XM_011545946.2:c.*25T>C	XP_011544248.1:n.*25T>C
XM_011545947.2:c.*221T>C	XP_011544249.1:n.*221T>C
XM_011545948.2:c.*25T>C	XP_011544250.1:n.*25T>C
XM_017023671.1:c.*25T>C	XP_016879160.1:n.*25T>C
XM_017023672.2:c.*25T>C	XP_016879161.1:n.*25T>C
XM_017023673.2:c.*221T>C	XP_016879162.1:n.*221T>C
NM_024675.4:c.*25T>C MANE Select	NP_078951.2:n.*25T>C