Canonical Allele Identifier: CA494175456

Gene: PALB2

Linked Data

• dbSNP Id: rs2142271136
• MyVariant Identifiers: chr16:g.23619190A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607869A>T , CM000678.2:g.23607869A>T	GRCh38
NC_000016.9:g.23619190A>T , CM000678.1:g.23619190A>T	GRCh37
NC_000016.8:g.23526691A>T	NCBI36
NG_007406.1:g.38489T>A , LRG_308:g.38489T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3351T>A	ENSP00000460666.3:p.Ala1117=
ENST00000565038.2:c.*826T>A	ENSP00000459882.2:n.*826T>A
ENST00000566069.6:c.3202-4200T>A	ENSP00000459237.2:n.3202-4200T>A
ENST00000697377.2:c.3189T>A	ENSP00000513286.2:p.Ala1063=
ENST00000697379.2:c.3351T>A	ENSP00000513287.2:p.Ala1117=
ENST00000561514.2:c.2460T>A	ENSP00000460666.2:p.Ala820=
ENST00000697374.1:c.2460T>A	ENSP00000513284.1:p.Ala820=
ENST00000697375.1:n.4692T>A
ENST00000697376.1:c.2317-4200T>A	ENSP00000513285.1:n.2317-4200T>A
ENST00000697377.1:c.2298T>A	ENSP00000513286.1:p.Ala766=
ENST00000697378.1:n.3865T>A
ENST00000697379.1:c.2460T>A	ENSP00000513287.1:p.Ala820=
ENST00000697380.1:n.2549T>A
ENST00000697381.1:n.2040T>A
ENST00000697382.1:c.*122T>A	ENSP00000513288.1:n.*122T>A
ENST00000697383.1:c.879T>A	ENSP00000513289.1:p.Ala293=
ENST00000261584.9:c.3345T>A MANE Select	ENSP00000261584.4:p.Ala1115=
ENST00000261584.8:c.3345T>A	ENSP00000261584.4:p.Ala1115=
ENST00000566069.5:c.117-4200T>A
ENST00000568219.5:c.2460T>A	ENSP00000454703.2:p.Ala820=
NM_024675.3:c.3345T>A , LRG_308t1:c.3345T>A	NP_078951.2:p.Ala1115=
XM_011545946.1:c.3351T>A	XP_011544248.1:p.Ala1117=
XM_011545947.1:c.3208-4200T>A	XP_011544249.1:n.3208-4200T>A
XM_011545948.1:c.2460T>A	XP_011544250.1:p.Ala820=
XR_950851.1:n.4053T>A
XM_011545946.2:c.3351T>A	XP_011544248.1:p.Ala1117=
XM_011545947.2:c.3208-4200T>A	XP_011544249.1:n.3208-4200T>A
XM_011545948.2:c.2460T>A	XP_011544250.1:p.Ala820=
XM_017023671.1:c.3120-4200T>A	XP_016879160.1:n.3120-4200T>A
XM_017023672.2:c.3114-4200T>A	XP_016879161.1:n.3114-4200T>A
XM_017023673.2:c.3202-4200T>A	XP_016879162.1:n.3202-4200T>A
NM_024675.4:c.3345T>A MANE Select	NP_078951.2:p.Ala1115=