Canonical Allele Identifier: CA395139283

Gene: PALB2

Linked Data

• dbSNP Id: rs2142271270
• MyVariant Identifiers: chr16:g.23619197C>A (hg19) ; chr16:g.23607876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607876C>A , CM000678.2:g.23607876C>A	GRCh38
NC_000016.9:g.23619197C>A , CM000678.1:g.23619197C>A	GRCh37
NC_000016.8:g.23526698C>A	NCBI36
NG_007406.1:g.38482G>T , LRG_308:g.38482G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3344G>T	ENSP00000460666.3:p.Gly1115Val
ENST00000565038.2:c.*819G>T	ENSP00000459882.2:n.*819G>T
ENST00000566069.6:c.3202-4207G>T	ENSP00000459237.2:n.3202-4207G>T
ENST00000697377.2:c.3182G>T	ENSP00000513286.2:p.Gly1061Val
ENST00000697379.2:c.3344G>T	ENSP00000513287.2:p.Gly1115Val
ENST00000561514.2:c.2453G>T	ENSP00000460666.2:p.Gly818Val
ENST00000697374.1:c.2453G>T	ENSP00000513284.1:p.Gly818Val
ENST00000697375.1:n.4685G>T
ENST00000697376.1:c.2317-4207G>T	ENSP00000513285.1:n.2317-4207G>T
ENST00000697377.1:c.2291G>T	ENSP00000513286.1:p.Gly764Val
ENST00000697378.1:n.3858G>T
ENST00000697379.1:c.2453G>T	ENSP00000513287.1:p.Gly818Val
ENST00000697380.1:n.2542G>T
ENST00000697381.1:n.2033G>T
ENST00000697382.1:c.*115G>T	ENSP00000513288.1:n.*115G>T
ENST00000697383.1:c.872G>T	ENSP00000513289.1:p.Gly291Val
ENST00000261584.9:c.3338G>T MANE Select	ENSP00000261584.4:p.Gly1113Val
ENST00000261584.8:c.3338G>T	ENSP00000261584.4:p.Gly1113Val
ENST00000566069.5:c.117-4207G>T
ENST00000568219.5:c.2453G>T	ENSP00000454703.2:p.Gly818Val
NM_024675.3:c.3338G>T , LRG_308t1:c.3338G>T	NP_078951.2:p.Gly1113Val
XM_011545946.1:c.3344G>T	XP_011544248.1:p.Gly1115Val
XM_011545947.1:c.3208-4207G>T	XP_011544249.1:n.3208-4207G>T
XM_011545948.1:c.2453G>T	XP_011544250.1:p.Gly818Val
XR_950851.1:n.4046G>T
XM_011545946.2:c.3344G>T	XP_011544248.1:p.Gly1115Val
XM_011545947.2:c.3208-4207G>T	XP_011544249.1:n.3208-4207G>T
XM_011545948.2:c.2453G>T	XP_011544250.1:p.Gly818Val
XM_017023671.1:c.3120-4207G>T	XP_016879160.1:n.3120-4207G>T
XM_017023672.2:c.3114-4207G>T	XP_016879161.1:n.3114-4207G>T
XM_017023673.2:c.3202-4207G>T	XP_016879162.1:n.3202-4207G>T
NM_024675.4:c.3338G>T MANE Select	NP_078951.2:p.Gly1113Val