Canonical Allele Identifier: CA395138435

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1713229
• ClinVar RCV Id: RCV002325724 ; RCV003156024
• dbSNP Id: rs1060502764
• MyVariant Identifiers: chr16:g.23614992T>A (hg19) ; chr16:g.23603671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603671T>A , CM000678.2:g.23603671T>A	GRCh38
NC_000016.9:g.23614992T>A , CM000678.1:g.23614992T>A	GRCh37
NC_000016.8:g.23522493T>A	NCBI36
NG_007406.1:g.42687A>T , LRG_308:g.42687A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3357-2A>T	ENSP00000460666.3:n.3357-2A>T
ENST00000565038.2:c.*836-2A>T	ENSP00000459882.2:n.*836-2A>T
ENST00000566069.6:c.3202-2A>T	ENSP00000459237.2:n.3202-2A>T
ENST00000697377.2:c.3195-2A>T	ENSP00000513286.2:n.3195-2A>T
ENST00000697379.2:c.3357-2A>T	ENSP00000513287.2:n.3357-2A>T
ENST00000561514.2:c.2466-2A>T	ENSP00000460666.2:n.2466-2A>T
ENST00000697374.1:c.2466-2A>T	ENSP00000513284.1:n.2466-2A>T
ENST00000697375.1:n.4698-2A>T
ENST00000697376.1:c.2317-2A>T	ENSP00000513285.1:n.2317-2A>T
ENST00000697377.1:c.2304-2A>T	ENSP00000513286.1:n.2304-2A>T
ENST00000697378.1:n.3871-2A>T
ENST00000697379.1:c.2466-2A>T	ENSP00000513287.1:n.2466-2A>T
ENST00000697380.1:n.2555-2A>T
ENST00000697381.1:n.2046-2A>T
ENST00000697382.1:c.*128-2A>T	ENSP00000513288.1:n.*128-2A>T
ENST00000697383.1:c.885-2A>T	ENSP00000513289.1:n.885-2A>T
ENST00000261584.9:c.3351-2A>T MANE Select	ENSP00000261584.4:n.3351-2A>T
ENST00000261584.8:c.3351-2A>T	ENSP00000261584.4:n.3351-2A>T
ENST00000566069.5:c.117-2A>T
ENST00000568219.5:c.2466-2A>T	ENSP00000454703.2:n.2466-2A>T
NM_024675.3:c.3351-2A>T , LRG_308t1:c.3351-2A>T	NP_078951.2:n.3351-2A>T
XM_011545946.1:c.3357-2A>T	XP_011544248.1:n.3357-2A>T
XM_011545947.1:c.3208-2A>T	XP_011544249.1:n.3208-2A>T
XM_011545948.1:c.2466-2A>T	XP_011544250.1:n.2466-2A>T
XR_950851.1:n.4059-2A>T
XM_011545946.2:c.3357-2A>T	XP_011544248.1:n.3357-2A>T
XM_011545947.2:c.3208-2A>T	XP_011544249.1:n.3208-2A>T
XM_011545948.2:c.2466-2A>T	XP_011544250.1:n.2466-2A>T
XM_017023671.1:c.3120-2A>T	XP_016879160.1:n.3120-2A>T
XM_017023672.2:c.3114-2A>T	XP_016879161.1:n.3114-2A>T
XM_017023673.2:c.3202-2A>T	XP_016879162.1:n.3202-2A>T
NM_024675.4:c.3351-2A>T MANE Select	NP_078951.2:n.3351-2A>T