Canonical Allele Identifier: CA395141216

Gene: PALB2

Linked Data

• dbSNP Id: rs45619737
• gnomAD v3: 16-23641147-G-T
• gnomAD v4: 16-23641147-G-T
• MyVariant Identifiers: chr16:g.23652468G>T (hg19) ; chr16:g.23641147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641147G>T , CM000678.2:g.23641147G>T	GRCh38
NC_000016.9:g.23652468G>T , CM000678.1:g.23652468G>T	GRCh37
NC_000016.8:g.23559969G>T	NCBI36
NG_007406.1:g.5211C>A , LRG_308:g.5211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-842C>A	ENSP00000460666.3:n.-842C>A
ENST00000565038.2:c.11C>A	ENSP00000459882.2:p.Pro4His
ENST00000566069.6:c.11C>A	ENSP00000459237.2:p.Pro4His
ENST00000697377.2:c.-229C>A	ENSP00000513286.2:n.-229C>A
ENST00000697379.2:c.-135C>A	ENSP00000513287.2:n.-135C>A
ENST00000561514.2:c.-1733C>A	ENSP00000460666.2:n.-1733C>A
ENST00000697374.1:c.-1324C>A	ENSP00000513284.1:n.-1324C>A
ENST00000697376.1:c.-1045C>A	ENSP00000513285.1:n.-1045C>A
ENST00000697377.1:c.-1120C>A	ENSP00000513286.1:n.-1120C>A
ENST00000697379.1:c.-1026C>A	ENSP00000513287.1:n.-1026C>A
ENST00000697382.1:c.-1784C>A	ENSP00000513288.1:n.-1784C>A
ENST00000697383.1:c.11C>A	ENSP00000513289.1:p.Pro4His
ENST00000697384.1:n.165C>A
ENST00000261584.9:c.11C>A MANE Select	ENSP00000261584.4:p.Pro4His
ENST00000261584.8:c.11C>A	ENSP00000261584.4:p.Pro4His
ENST00000567003.1:n.155C>A
ENST00000568219.5:c.-858C>A	ENSP00000454703.2:n.-858C>A
NM_024675.3:c.11C>A , LRG_308t1:c.11C>A	NP_078951.2:p.Pro4His
XM_011545948.1:c.-1009C>A	XP_011544250.1:n.-1009C>A
XM_011545946.2:c.-842C>A	XP_011544248.1:n.-842C>A
XM_011545947.2:c.-842C>A	XP_011544249.1:n.-842C>A
XM_011545948.2:c.-1009C>A	XP_011544250.1:n.-1009C>A
XM_017023671.1:c.-842C>A	XP_016879160.1:n.-842C>A
XM_017023672.2:c.11C>A	XP_016879161.1:p.Pro4His
XM_017023673.2:c.11C>A	XP_016879162.1:p.Pro4His
NM_024675.4:c.11C>A MANE Select	NP_078951.2:p.Pro4His