Canonical Allele Identifier: CA395138935

Gene: PALB2

Linked Data

• dbSNP Id: rs2142447895
• MyVariant Identifiers: chr16:g.23647629C>G (hg19) ; chr16:g.23636308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636308C>G , CM000678.2:g.23636308C>G	GRCh38
NC_000016.9:g.23647629C>G , CM000678.1:g.23647629C>G	GRCh37
NC_000016.8:g.23555130C>G	NCBI36
NG_007406.1:g.10050G>C , LRG_308:g.10050G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.244G>C	ENSP00000460666.3:p.Asp82His
ENST00000565038.2:c.211+1542G>C	ENSP00000459882.2:n.211+1542G>C
ENST00000566069.6:c.238G>C	ENSP00000459237.2:p.Asp80His
ENST00000697377.2:c.244G>C	ENSP00000513286.2:p.Asp82His
ENST00000697379.2:c.244G>C	ENSP00000513287.2:p.Asp82His
ENST00000561514.2:c.-648G>C	ENSP00000460666.2:n.-648G>C
ENST00000697374.1:c.-648G>C	ENSP00000513284.1:n.-648G>C
ENST00000697375.1:n.1585G>C
ENST00000697376.1:c.-648G>C	ENSP00000513285.1:n.-648G>C
ENST00000697377.1:c.-648G>C	ENSP00000513286.1:n.-648G>C
ENST00000697378.1:n.758G>C
ENST00000697379.1:c.-648G>C	ENSP00000513287.1:n.-648G>C
ENST00000697382.1:c.-648G>C	ENSP00000513288.1:n.-648G>C
ENST00000697383.1:c.48+4802G>C	ENSP00000513289.1:n.48+4802G>C
ENST00000697384.1:n.392G>C
ENST00000261584.9:c.238G>C MANE Select	ENSP00000261584.4:p.Asp80His
ENST00000261584.8:c.238G>C	ENSP00000261584.4:p.Asp80His
ENST00000561514.1:c.244G>C	ENSP00000460666.1:p.Asp82His
ENST00000565038.1:c.86+1542G>C
ENST00000567003.1:n.516G>C
ENST00000568219.5:c.-648G>C	ENSP00000454703.2:n.-648G>C
NM_024675.3:c.238G>C , LRG_308t1:c.238G>C	NP_078951.2:p.Asp80His
XM_011545946.1:c.244G>C	XP_011544248.1:p.Asp82His
XM_011545947.1:c.244G>C	XP_011544249.1:p.Asp82His
XM_011545948.1:c.-648G>C	XP_011544250.1:n.-648G>C
XR_950851.1:n.1034G>C
XM_011545946.2:c.244G>C	XP_011544248.1:p.Asp82His
XM_011545947.2:c.244G>C	XP_011544249.1:p.Asp82His
XM_011545948.2:c.-648G>C	XP_011544250.1:n.-648G>C
XM_017023671.1:c.244G>C	XP_016879160.1:p.Asp82His
XM_017023672.2:c.238G>C	XP_016879161.1:p.Asp80His
XM_017023673.2:c.238G>C	XP_016879162.1:p.Asp80His
NM_024675.4:c.238G>C MANE Select	NP_078951.2:p.Asp80His