Canonical Allele Identifier: CA336127

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607954C>T , CM000678.2:g.23607954C>T	GRCh38
NC_000016.9:g.23619275C>T , CM000678.1:g.23619275C>T	GRCh37
NC_000016.8:g.23526776C>T	NCBI36
NG_007406.1:g.38404G>A , LRG_308:g.38404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3266G>A	ENSP00000460666.3:p.Ser1089Asn
ENST00000565038.2:c.*741G>A	ENSP00000459882.2:n.*741G>A
ENST00000566069.6:c.3202-4285G>A	ENSP00000459237.2:n.3202-4285G>A
ENST00000697377.2:c.3104G>A	ENSP00000513286.2:p.Ser1035Asn
ENST00000697379.2:c.3266G>A	ENSP00000513287.2:p.Ser1089Asn
ENST00000561514.2:c.2375G>A	ENSP00000460666.2:p.Ser792Asn
ENST00000697374.1:c.2375G>A	ENSP00000513284.1:p.Ser792Asn
ENST00000697375.1:n.4607G>A
ENST00000697376.1:c.2317-4285G>A	ENSP00000513285.1:n.2317-4285G>A
ENST00000697377.1:c.2213G>A	ENSP00000513286.1:p.Ser738Asn
ENST00000697378.1:n.3780G>A
ENST00000697379.1:c.2375G>A	ENSP00000513287.1:p.Ser792Asn
ENST00000697380.1:n.2464G>A
ENST00000697381.1:n.1955G>A
ENST00000697382.1:c.*37G>A	ENSP00000513288.1:n.*37G>A
ENST00000697383.1:c.794G>A	ENSP00000513289.1:p.Ser265Asn
ENST00000261584.9:c.3260G>A MANE Select	ENSP00000261584.4:p.Ser1087Asn
ENST00000261584.8:c.3260G>A	ENSP00000261584.4:p.Ser1087Asn
ENST00000566069.5:c.117-4285G>A
ENST00000568219.5:c.2375G>A	ENSP00000454703.2:p.Ser792Asn
NM_024675.3:c.3260G>A , LRG_308t1:c.3260G>A	NP_078951.2:p.Ser1087Asn
XM_011545946.1:c.3266G>A	XP_011544248.1:p.Ser1089Asn
XM_011545947.1:c.3208-4285G>A	XP_011544249.1:n.3208-4285G>A
XM_011545948.1:c.2375G>A	XP_011544250.1:p.Ser792Asn
XR_950851.1:n.3968G>A
XM_011545946.2:c.3266G>A	XP_011544248.1:p.Ser1089Asn
XM_011545947.2:c.3208-4285G>A	XP_011544249.1:n.3208-4285G>A
XM_011545948.2:c.2375G>A	XP_011544250.1:p.Ser792Asn
XM_017023671.1:c.3120-4285G>A	XP_016879160.1:n.3120-4285G>A
XM_017023672.2:c.3114-4285G>A	XP_016879161.1:n.3114-4285G>A
XM_017023673.2:c.3202-4285G>A	XP_016879162.1:n.3202-4285G>A
NM_024675.4:c.3260G>A MANE Select	NP_078951.2:p.Ser1087Asn