Canonical Allele Identifier: CA395137890

Gene: PALB2

Linked Data

• dbSNP Id: rs2142252021
• MyVariant Identifiers: chr16:g.23614838T>A (hg19) ; chr16:g.23603517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603517T>A , CM000678.2:g.23603517T>A	GRCh38
NC_000016.9:g.23614838T>A , CM000678.1:g.23614838T>A	GRCh37
NC_000016.8:g.23522339T>A	NCBI36
NG_007406.1:g.42841A>T , LRG_308:g.42841A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3509A>T	ENSP00000460666.3:p.Asp1170Val
ENST00000565038.2:c.*988A>T	ENSP00000459882.2:n.*988A>T
ENST00000566069.6:c.*138A>T	ENSP00000459237.2:n.*138A>T
ENST00000697377.2:c.3347A>T	ENSP00000513286.2:p.Asp1116Val
ENST00000697379.2:c.3509A>T	ENSP00000513287.2:p.Asp1170Val
ENST00000561514.2:c.2618A>T	ENSP00000460666.2:p.Asp873Val
ENST00000697374.1:c.2618A>T	ENSP00000513284.1:p.Asp873Val
ENST00000697375.1:n.4850A>T
ENST00000697376.1:c.*138A>T	ENSP00000513285.1:n.*138A>T
ENST00000697377.1:c.2456A>T	ENSP00000513286.1:p.Asp819Val
ENST00000697378.1:n.4023A>T
ENST00000697379.1:c.2618A>T	ENSP00000513287.1:p.Asp873Val
ENST00000697380.1:n.2707A>T
ENST00000697381.1:n.2198A>T
ENST00000697382.1:c.*280A>T	ENSP00000513288.1:n.*280A>T
ENST00000697383.1:c.1037A>T	ENSP00000513289.1:p.Asp346Val
ENST00000261584.9:c.3503A>T MANE Select	ENSP00000261584.4:p.Asp1168Val
ENST00000261584.8:c.3503A>T	ENSP00000261584.4:p.Asp1168Val
ENST00000566069.5:c.269A>T
ENST00000568219.5:c.2618A>T	ENSP00000454703.2:p.Asp873Val
NM_024675.3:c.3503A>T , LRG_308t1:c.3503A>T	NP_078951.2:p.Asp1168Val
XM_011545946.1:c.3509A>T	XP_011544248.1:p.Asp1170Val
XM_011545947.1:c.*138A>T	XP_011544249.1:n.*138A>T
XM_011545948.1:c.2618A>T	XP_011544250.1:p.Asp873Val
XR_950851.1:n.4211A>T
XM_011545946.2:c.3509A>T	XP_011544248.1:p.Asp1170Val
XM_011545947.2:c.*138A>T	XP_011544249.1:n.*138A>T
XM_011545948.2:c.2618A>T	XP_011544250.1:p.Asp873Val
XM_017023671.1:c.3272A>T	XP_016879160.1:p.Asp1091Val
XM_017023672.2:c.3266A>T	XP_016879161.1:p.Asp1089Val
XM_017023673.2:c.*138A>T	XP_016879162.1:n.*138A>T
NM_024675.4:c.3503A>T MANE Select	NP_078951.2:p.Asp1168Val