Canonical Allele Identifier: CA2213412230
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23622990A= , CM000678.2:g.23622990A= GRCh38
NC_000016.9:g.23634311A= , CM000678.1:g.23634311A= GRCh37
NC_000016.8:g.23541812A= NCBI36
NG_007406.1:g.23368T= , LRG_308:g.23368T=

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2981T= ENSP00000460666.3:p.Met994=
ENST00000565038.2:c.*456T= ENSP00000459882.2:n.*456T=
ENST00000566069.6:c.2975T= ENSP00000459237.2:p.Met992=
ENST00000697377.2:c.2819T= ENSP00000513286.2:p.Met940=
ENST00000697379.2:c.2981T= ENSP00000513287.2:p.Met994=
ENST00000561514.2:c.2090T= ENSP00000460666.2:p.Met697=
ENST00000697374.1:c.2090T= ENSP00000513284.1:p.Met697=
ENST00000697375.1:n.4322T=
ENST00000697376.1:c.2090T= ENSP00000513285.1:p.Met697=
ENST00000697377.1:c.1928T= ENSP00000513286.1:p.Met643=
ENST00000697378.1:n.3495T=
ENST00000697379.1:c.2090T= ENSP00000513287.1:p.Met697=
ENST00000697380.1:n.2267T=
ENST00000697381.1:n.1670T=
ENST00000697382.1:c.2090T= ENSP00000513288.1:p.Met697=
ENST00000697383.1:c.509T= ENSP00000513289.1:p.Met170=
ENST00000261584.9:c.2975T= MANE Select ENSP00000261584.4:p.Met992=
ENST00000261584.8:c.2975T= ENSP00000261584.4:p.Met992=
ENST00000568219.5:c.2090T= ENSP00000454703.2:p.Met697=
NM_024675.3:c.2975T= , LRG_308t1:c.2975T= NP_078951.2:p.Met992=
XM_011545946.1:c.2981T= XP_011544248.1:p.Met994=
XM_011545947.1:c.2981T= XP_011544249.1:p.Met994=
XM_011545948.1:c.2090T= XP_011544250.1:p.Met697=
XR_950851.1:n.3771T=
XM_011545946.2:c.2981T= XP_011544248.1:p.Met994=
XM_011545947.2:c.2981T= XP_011544249.1:p.Met994=
XM_011545948.2:c.2090T= XP_011544250.1:p.Met697=
XM_017023671.1:c.2981T= XP_016879160.1:p.Met994=
XM_017023672.2:c.2975T= XP_016879161.1:p.Met992=
XM_017023673.2:c.2975T= XP_016879162.1:p.Met992=
NM_024675.4:c.2975T= MANE Select NP_078951.2:p.Met992=