Canonical Allele Identifier: CA299756

Gene: PALB2

Linked Data

• ClinVar Variation Id: 182776
• ClinVar RCV Id: RCV000160856 ; RCV000799466
• dbSNP Id: rs730881895
• MyVariant Identifiers: chr16:g.23614889A>T (hg19) ; chr16:g.23603568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603568A>T , CM000678.2:g.23603568A>T	GRCh38
NC_000016.9:g.23614889A>T , CM000678.1:g.23614889A>T	GRCh37
NC_000016.8:g.23522390A>T	NCBI36
NG_007406.1:g.42790T>A , LRG_308:g.42790T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3458T>A	ENSP00000460666.3:p.Leu1153His
ENST00000565038.2:c.*937T>A	ENSP00000459882.2:n.*937T>A
ENST00000566069.6:c.*87T>A	ENSP00000459237.2:n.*87T>A
ENST00000697377.2:c.3296T>A	ENSP00000513286.2:p.Leu1099His
ENST00000697379.2:c.3458T>A	ENSP00000513287.2:p.Leu1153His
ENST00000561514.2:c.2567T>A	ENSP00000460666.2:p.Leu856His
ENST00000697374.1:c.2567T>A	ENSP00000513284.1:p.Leu856His
ENST00000697375.1:n.4799T>A
ENST00000697376.1:c.*87T>A	ENSP00000513285.1:n.*87T>A
ENST00000697377.1:c.2405T>A	ENSP00000513286.1:p.Leu802His
ENST00000697378.1:n.3972T>A
ENST00000697379.1:c.2567T>A	ENSP00000513287.1:p.Leu856His
ENST00000697380.1:n.2656T>A
ENST00000697381.1:n.2147T>A
ENST00000697382.1:c.*229T>A	ENSP00000513288.1:n.*229T>A
ENST00000697383.1:c.986T>A	ENSP00000513289.1:p.Leu329His
ENST00000261584.9:c.3452T>A MANE Select	ENSP00000261584.4:p.Leu1151His
ENST00000261584.8:c.3452T>A	ENSP00000261584.4:p.Leu1151His
ENST00000566069.5:c.218T>A
ENST00000568219.5:c.2567T>A	ENSP00000454703.2:p.Leu856His
NM_024675.3:c.3452T>A , LRG_308t1:c.3452T>A	NP_078951.2:p.Leu1151His
XM_011545946.1:c.3458T>A	XP_011544248.1:p.Leu1153His
XM_011545947.1:c.*87T>A	XP_011544249.1:n.*87T>A
XM_011545948.1:c.2567T>A	XP_011544250.1:p.Leu856His
XR_950851.1:n.4160T>A
XM_011545946.2:c.3458T>A	XP_011544248.1:p.Leu1153His
XM_011545947.2:c.*87T>A	XP_011544249.1:n.*87T>A
XM_011545948.2:c.2567T>A	XP_011544250.1:p.Leu856His
XM_017023671.1:c.3221T>A	XP_016879160.1:p.Leu1074His
XM_017023672.2:c.3215T>A	XP_016879161.1:p.Leu1072His
XM_017023673.2:c.*87T>A	XP_016879162.1:n.*87T>A
NM_024675.4:c.3452T>A MANE Select	NP_078951.2:p.Leu1151His