Canonical Allele Identifier: CA395121905
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1060502726

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626273C>A , CM000678.2:g.23626273C>A GRCh38
NC_000016.9:g.23637594C>A , CM000678.1:g.23637594C>A GRCh37
NC_000016.8:g.23545095C>A NCBI36
NG_007406.1:g.20085G>T , LRG_308:g.20085G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2717G>T ENSP00000460666.3:p.Trp906Leu
ENST00000565038.2:c.*192G>T ENSP00000459882.2:n.*192G>T
ENST00000566069.6:c.2711G>T ENSP00000459237.2:p.Trp904Leu
ENST00000697377.2:c.2593-2179G>T ENSP00000513286.2:n.2593-2179G>T
ENST00000697379.2:c.2717G>T ENSP00000513287.2:p.Trp906Leu
ENST00000561514.2:c.1826G>T ENSP00000460666.2:p.Trp609Leu
ENST00000697374.1:c.1826G>T ENSP00000513284.1:p.Trp609Leu
ENST00000697375.1:n.4058G>T
ENST00000697376.1:c.1826G>T ENSP00000513285.1:p.Trp609Leu
ENST00000697377.1:c.1702-2179G>T ENSP00000513286.1:n.1702-2179G>T
ENST00000697378.1:n.3231G>T
ENST00000697379.1:c.1826G>T ENSP00000513287.1:p.Trp609Leu
ENST00000697380.1:n.2003G>T
ENST00000697381.1:n.1406G>T
ENST00000697382.1:c.1826G>T ENSP00000513288.1:p.Trp609Leu
ENST00000697383.1:c.245G>T ENSP00000513289.1:p.Trp82Leu
ENST00000261584.9:c.2711G>T MANE Select ENSP00000261584.4:p.Trp904Leu
ENST00000261584.8:c.2711G>T ENSP00000261584.4:p.Trp904Leu
ENST00000565038.1:c.283G>T
ENST00000568219.5:c.1826G>T ENSP00000454703.2:p.Trp609Leu
NM_024675.3:c.2711G>T , LRG_308t1:c.2711G>T NP_078951.2:p.Trp904Leu
XM_011545946.1:c.2717G>T XP_011544248.1:p.Trp906Leu
XM_011545947.1:c.2717G>T XP_011544249.1:p.Trp906Leu
XM_011545948.1:c.1826G>T XP_011544250.1:p.Trp609Leu
XR_950851.1:n.3507G>T
XM_011545946.2:c.2717G>T XP_011544248.1:p.Trp906Leu
XM_011545947.2:c.2717G>T XP_011544249.1:p.Trp906Leu
XM_011545948.2:c.1826G>T XP_011544250.1:p.Trp609Leu
XM_017023671.1:c.2717G>T XP_016879160.1:p.Trp906Leu
XM_017023672.2:c.2711G>T XP_016879161.1:p.Trp904Leu
XM_017023673.2:c.2711G>T XP_016879162.1:p.Trp904Leu
NM_024675.4:c.2711G>T MANE Select NP_078951.2:p.Trp904Leu