Canonical Allele Identifier: CA395139990

Gene: PALB2

Linked Data

• dbSNP Id: rs2142273874
• MyVariant Identifiers: chr16:g.23619305G>T (hg19) ; chr16:g.23607984G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607984G>T , CM000678.2:g.23607984G>T	GRCh38
NC_000016.9:g.23619305G>T , CM000678.1:g.23619305G>T	GRCh37
NC_000016.8:g.23526806G>T	NCBI36
NG_007406.1:g.38374C>A , LRG_308:g.38374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3236C>A	ENSP00000460666.3:p.Pro1079His
ENST00000565038.2:c.*711C>A	ENSP00000459882.2:n.*711C>A
ENST00000566069.6:c.3202-4315C>A	ENSP00000459237.2:n.3202-4315C>A
ENST00000697377.2:c.3074C>A	ENSP00000513286.2:p.Pro1025His
ENST00000697379.2:c.3236C>A	ENSP00000513287.2:p.Pro1079His
ENST00000561514.2:c.2345C>A	ENSP00000460666.2:p.Pro782His
ENST00000697374.1:c.2345C>A	ENSP00000513284.1:p.Pro782His
ENST00000697375.1:n.4577C>A
ENST00000697376.1:c.2317-4315C>A	ENSP00000513285.1:n.2317-4315C>A
ENST00000697377.1:c.2183C>A	ENSP00000513286.1:p.Pro728His
ENST00000697378.1:n.3750C>A
ENST00000697379.1:c.2345C>A	ENSP00000513287.1:p.Pro782His
ENST00000697380.1:n.2434C>A
ENST00000697381.1:n.1925C>A
ENST00000697382.1:c.*7C>A	ENSP00000513288.1:n.*7C>A
ENST00000697383.1:c.764C>A	ENSP00000513289.1:p.Pro255His
ENST00000261584.9:c.3230C>A MANE Select	ENSP00000261584.4:p.Pro1077His
ENST00000261584.8:c.3230C>A	ENSP00000261584.4:p.Pro1077His
ENST00000566069.5:c.117-4315C>A
ENST00000568219.5:c.2345C>A	ENSP00000454703.2:p.Pro782His
NM_024675.3:c.3230C>A , LRG_308t1:c.3230C>A	NP_078951.2:p.Pro1077His
XM_011545946.1:c.3236C>A	XP_011544248.1:p.Pro1079His
XM_011545947.1:c.3208-4315C>A	XP_011544249.1:n.3208-4315C>A
XM_011545948.1:c.2345C>A	XP_011544250.1:p.Pro782His
XR_950851.1:n.3938C>A
XM_011545946.2:c.3236C>A	XP_011544248.1:p.Pro1079His
XM_011545947.2:c.3208-4315C>A	XP_011544249.1:n.3208-4315C>A
XM_011545948.2:c.2345C>A	XP_011544250.1:p.Pro782His
XM_017023671.1:c.3120-4315C>A	XP_016879160.1:n.3120-4315C>A
XM_017023672.2:c.3114-4315C>A	XP_016879161.1:n.3114-4315C>A
XM_017023673.2:c.3202-4315C>A	XP_016879162.1:n.3202-4315C>A
NM_024675.4:c.3230C>A MANE Select	NP_078951.2:p.Pro1077His