Canonical Allele Identifier: CA395139864

Gene: PALB2

Linked Data

• dbSNP Id: rs2142273568
• MyVariant Identifiers: chr16:g.23619290C>T (hg19) ; chr16:g.23607969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607969C>T , CM000678.2:g.23607969C>T	GRCh38
NC_000016.9:g.23619290C>T , CM000678.1:g.23619290C>T	GRCh37
NC_000016.8:g.23526791C>T	NCBI36
NG_007406.1:g.38389G>A , LRG_308:g.38389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3251G>A	ENSP00000460666.3:p.Ser1084Asn
ENST00000565038.2:c.*726G>A	ENSP00000459882.2:n.*726G>A
ENST00000566069.6:c.3202-4300G>A	ENSP00000459237.2:n.3202-4300G>A
ENST00000697377.2:c.3089G>A	ENSP00000513286.2:p.Ser1030Asn
ENST00000697379.2:c.3251G>A	ENSP00000513287.2:p.Ser1084Asn
ENST00000561514.2:c.2360G>A	ENSP00000460666.2:p.Ser787Asn
ENST00000697374.1:c.2360G>A	ENSP00000513284.1:p.Ser787Asn
ENST00000697375.1:n.4592G>A
ENST00000697376.1:c.2317-4300G>A	ENSP00000513285.1:n.2317-4300G>A
ENST00000697377.1:c.2198G>A	ENSP00000513286.1:p.Ser733Asn
ENST00000697378.1:n.3765G>A
ENST00000697379.1:c.2360G>A	ENSP00000513287.1:p.Ser787Asn
ENST00000697380.1:n.2449G>A
ENST00000697381.1:n.1940G>A
ENST00000697382.1:c.*22G>A	ENSP00000513288.1:n.*22G>A
ENST00000697383.1:c.779G>A	ENSP00000513289.1:p.Ser260Asn
ENST00000261584.9:c.3245G>A MANE Select	ENSP00000261584.4:p.Ser1082Asn
ENST00000261584.8:c.3245G>A	ENSP00000261584.4:p.Ser1082Asn
ENST00000566069.5:c.117-4300G>A
ENST00000568219.5:c.2360G>A	ENSP00000454703.2:p.Ser787Asn
NM_024675.3:c.3245G>A , LRG_308t1:c.3245G>A	NP_078951.2:p.Ser1082Asn
XM_011545946.1:c.3251G>A	XP_011544248.1:p.Ser1084Asn
XM_011545947.1:c.3208-4300G>A	XP_011544249.1:n.3208-4300G>A
XM_011545948.1:c.2360G>A	XP_011544250.1:p.Ser787Asn
XR_950851.1:n.3953G>A
XM_011545946.2:c.3251G>A	XP_011544248.1:p.Ser1084Asn
XM_011545947.2:c.3208-4300G>A	XP_011544249.1:n.3208-4300G>A
XM_011545948.2:c.2360G>A	XP_011544250.1:p.Ser787Asn
XM_017023671.1:c.3120-4300G>A	XP_016879160.1:n.3120-4300G>A
XM_017023672.2:c.3114-4300G>A	XP_016879161.1:n.3114-4300G>A
XM_017023673.2:c.3202-4300G>A	XP_016879162.1:n.3202-4300G>A
NM_024675.4:c.3245G>A MANE Select	NP_078951.2:p.Ser1082Asn