Canonical Allele Identifier: CA2632328145

Gene: PALB2

Linked Data

• dbSNP Id: rs2142449158
• gnomAD v4: 16-23636405-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636405C>G , CM000678.2:g.23636405C>G	GRCh38
NC_000016.9:g.23647726C>G , CM000678.1:g.23647726C>G	GRCh37
NC_000016.8:g.23555227C>G	NCBI36
NG_007406.1:g.9953G>C , LRG_308:g.9953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.218-71G>C	ENSP00000460666.3:n.218-71G>C
ENST00000565038.2:c.211+1445G>C	ENSP00000459882.2:n.211+1445G>C
ENST00000566069.6:c.212-71G>C	ENSP00000459237.2:n.212-71G>C
ENST00000697377.2:c.218-71G>C	ENSP00000513286.2:n.218-71G>C
ENST00000697379.2:c.218-71G>C	ENSP00000513287.2:n.218-71G>C
ENST00000561514.2:c.-674-71G>C	ENSP00000460666.2:n.-674-71G>C
ENST00000697374.1:c.-674-71G>C	ENSP00000513284.1:n.-674-71G>C
ENST00000697375.1:n.1559-71G>C
ENST00000697376.1:c.-674-71G>C	ENSP00000513285.1:n.-674-71G>C
ENST00000697377.1:c.-674-71G>C	ENSP00000513286.1:n.-674-71G>C
ENST00000697378.1:n.732-71G>C
ENST00000697379.1:c.-674-71G>C	ENSP00000513287.1:n.-674-71G>C
ENST00000697382.1:c.-674-71G>C	ENSP00000513288.1:n.-674-71G>C
ENST00000697383.1:c.48+4705G>C	ENSP00000513289.1:n.48+4705G>C
ENST00000697384.1:n.366-71G>C
ENST00000261584.9:c.212-71G>C MANE Select	ENSP00000261584.4:n.212-71G>C
ENST00000261584.8:c.212-71G>C	ENSP00000261584.4:n.212-71G>C
ENST00000561514.1:c.218-71G>C	ENSP00000460666.1:n.218-71G>C
ENST00000565038.1:c.86+1445G>C
ENST00000567003.1:n.490-71G>C
ENST00000568219.5:c.-674-71G>C	ENSP00000454703.2:n.-674-71G>C
NM_024675.3:c.212-71G>C , LRG_308t1:c.212-71G>C	NP_078951.2:n.212-71G>C
XM_011545946.1:c.218-71G>C	XP_011544248.1:n.218-71G>C
XM_011545947.1:c.218-71G>C	XP_011544249.1:n.218-71G>C
XM_011545948.1:c.-674-71G>C	XP_011544250.1:n.-674-71G>C
XR_950851.1:n.1008-71G>C
XM_011545946.2:c.218-71G>C	XP_011544248.1:n.218-71G>C
XM_011545947.2:c.218-71G>C	XP_011544249.1:n.218-71G>C
XM_011545948.2:c.-674-71G>C	XP_011544250.1:n.-674-71G>C
XM_017023671.1:c.218-71G>C	XP_016879160.1:n.218-71G>C
XM_017023672.2:c.212-71G>C	XP_016879161.1:n.212-71G>C
XM_017023673.2:c.212-71G>C	XP_016879162.1:n.212-71G>C
NM_024675.4:c.212-71G>C MANE Select	NP_078951.2:n.212-71G>C