Canonical Allele Identifier: CA395139972

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607981C>G , CM000678.2:g.23607981C>G	GRCh38
NC_000016.9:g.23619302C>G , CM000678.1:g.23619302C>G	GRCh37
NC_000016.8:g.23526803C>G	NCBI36
NG_007406.1:g.38377G>C , LRG_308:g.38377G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3233G>C MANE Select	NP_078951.2:p.Cys1078Ser
ENST00000261584.9:c.3233G>C MANE Select	ENSP00000261584.4:p.Cys1078Ser
NM_024675.3:c.3233G>C , LRG_308t1:c.3233G>C	NP_078951.2:p.Cys1078Ser
ENST00000261584.8:c.3233G>C	ENSP00000261584.4:p.Cys1078Ser
ENST00000561514.2:c.2348G>C	ENSP00000460666.2:p.Cys783Ser
ENST00000561514.3:c.3239G>C	ENSP00000460666.3:p.Cys1080Ser
ENST00000565038.2:c.*714G>C	ENSP00000459882.2:n.*714G>C
ENST00000566069.5:c.117-4312G>C
ENST00000566069.6:c.3202-4312G>C	ENSP00000459237.2:n.3202-4312G>C
ENST00000568219.5:c.2348G>C	ENSP00000454703.2:p.Cys783Ser
ENST00000697374.1:c.2348G>C	ENSP00000513284.1:p.Cys783Ser
ENST00000697375.1:n.4580G>C
ENST00000697376.1:c.2317-4312G>C	ENSP00000513285.1:n.2317-4312G>C
ENST00000697377.1:c.2186G>C	ENSP00000513286.1:p.Cys729Ser
ENST00000697377.2:c.3077G>C	ENSP00000513286.2:p.Cys1026Ser
ENST00000697378.1:n.3753G>C
ENST00000697379.1:c.2348G>C	ENSP00000513287.1:p.Cys783Ser
ENST00000697379.2:c.3239G>C	ENSP00000513287.2:p.Cys1080Ser
ENST00000697380.1:n.2437G>C
ENST00000697381.1:n.1928G>C
ENST00000697382.1:c.*10G>C	ENSP00000513288.1:n.*10G>C
ENST00000697383.1:c.767G>C	ENSP00000513289.1:p.Cys256Ser
XM_011545946.1:c.3239G>C	XP_011544248.1:p.Cys1080Ser
XM_011545946.2:c.3239G>C	XP_011544248.1:p.Cys1080Ser
XM_011545947.1:c.3208-4312G>C	XP_011544249.1:n.3208-4312G>C
XM_011545947.2:c.3208-4312G>C	XP_011544249.1:n.3208-4312G>C
XM_011545948.1:c.2348G>C	XP_011544250.1:p.Cys783Ser
XM_011545948.2:c.2348G>C	XP_011544250.1:p.Cys783Ser
XM_017023671.1:c.3120-4312G>C	XP_016879160.1:n.3120-4312G>C
XM_017023672.2:c.3114-4312G>C	XP_016879161.1:n.3114-4312G>C
XM_017023673.2:c.3202-4312G>C	XP_016879162.1:n.3202-4312G>C
XR_950851.1:n.3941G>C