Canonical Allele Identifier: CA279491209

Gene: PALB2

Linked Data

• dbSNP Id: rs970750633
• gnomAD v3: 16-23629070-C-A
• gnomAD v4: 16-23629070-C-A
• MyVariant Identifiers: chr16:g.23640391C>A (hg19) ; chr16:g.23629070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629070C>A , CM000678.2:g.23629070C>A	GRCh38
NC_000016.9:g.23640391C>A , CM000678.1:g.23640391C>A	GRCh37
NC_000016.8:g.23547892C>A	NCBI36
NG_007406.1:g.17288G>T , LRG_308:g.17288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2592+134G>T	ENSP00000460666.3:n.2592+134G>T
ENST00000565038.2:c.*67+134G>T	ENSP00000459882.2:n.*67+134G>T
ENST00000566069.6:c.2586+134G>T	ENSP00000459237.2:n.2586+134G>T
ENST00000697377.2:c.2592+134G>T	ENSP00000513286.2:n.2592+134G>T
ENST00000697379.2:c.2592+134G>T	ENSP00000513287.2:n.2592+134G>T
ENST00000561514.2:c.1701+134G>T	ENSP00000460666.2:n.1701+134G>T
ENST00000697374.1:c.1701+134G>T	ENSP00000513284.1:n.1701+134G>T
ENST00000697375.1:n.3933+134G>T
ENST00000697376.1:c.1701+134G>T	ENSP00000513285.1:n.1701+134G>T
ENST00000697377.1:c.1701+134G>T	ENSP00000513286.1:n.1701+134G>T
ENST00000697378.1:n.3106+134G>T
ENST00000697379.1:c.1701+134G>T	ENSP00000513287.1:n.1701+134G>T
ENST00000697380.1:n.1878+134G>T
ENST00000697381.1:n.1281+134G>T
ENST00000697382.1:c.1701+134G>T	ENSP00000513288.1:n.1701+134G>T
ENST00000697383.1:c.120+134G>T	ENSP00000513289.1:n.120+134G>T
ENST00000261584.9:c.2586+134G>T MANE Select	ENSP00000261584.4:n.2586+134G>T
ENST00000261584.8:c.2586+134G>T	ENSP00000261584.4:n.2586+134G>T
ENST00000565038.1:c.158+134G>T
ENST00000568219.5:c.1701+134G>T	ENSP00000454703.2:n.1701+134G>T
NM_024675.3:c.2586+134G>T , LRG_308t1:c.2586+134G>T	NP_078951.2:n.2586+134G>T
XM_011545946.1:c.2592+134G>T	XP_011544248.1:n.2592+134G>T
XM_011545947.1:c.2592+134G>T	XP_011544249.1:n.2592+134G>T
XM_011545948.1:c.1701+134G>T	XP_011544250.1:n.1701+134G>T
XR_950851.1:n.3382+134G>T
XM_011545946.2:c.2592+134G>T	XP_011544248.1:n.2592+134G>T
XM_011545947.2:c.2592+134G>T	XP_011544249.1:n.2592+134G>T
XM_011545948.2:c.1701+134G>T	XP_011544250.1:n.1701+134G>T
XM_017023671.1:c.2592+134G>T	XP_016879160.1:n.2592+134G>T
XM_017023672.2:c.2586+134G>T	XP_016879161.1:n.2586+134G>T
XM_017023673.2:c.2586+134G>T	XP_016879162.1:n.2586+134G>T
NM_024675.4:c.2586+134G>T MANE Select	NP_078951.2:n.2586+134G>T